Materiały źródłowe

• #1 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Maple syrup urine disease is a rare inherited disorder caused by the bodys inability to properly process amino acids, leading to a characteristic odor of maple syrup in the baby’s urine. If not diagnosed and treated soon after birth, maple syrup urine disease (MSUD) can be life threatening as early as the first two weeks of life. […] Therefore, early detection and treatment essential. In most cases, MSUD can be successfully managed with a specialized diet that breaks down the three specific amino acids leucine, isoleucine and valine preventing them and their toxic by-products from accumulating abnormally in the blood. […] MSUD can cause irreversible metabolic damage and be life-limiting. For these reasons, its important to diagnose the disease as soon as possible and begin treatment. […] Treatment for MSUD includes: A life-long protein-restricted diet to promote proper growth and development, and prevent amino acid buildup.

• #2 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  People with maple syrup urine disease (MSUD) cant break down three specific amino acids found in protein-containing foods. […] Without medical management, MSUD can lead to a wide range of intellectual and physical disabilities. It can be fatal without proper management. […] Seek immediate treatment if you see signs of MSUD in your child. Without prompt care, MSUD can cause serious complications, including developmental delays and even death. […] Healthcare providers manage MSUD by controlling the level of the three amino acids (leucine, isoleucine and valine) in your body and providing emergency treatment to reverse a metabolic crisis if one arises. […] You or your child will need to follow a strict diet that provides essential nutrients but limits the amounts of the three amino acids. This means youll need to limit your protein.

• #3 Maple Syrup Urine Disease and Other Disorders of Branched Chain Amino Acid Catabolism | myadlm.org

  https://myadlm.org/science-and-research/clinical-chemistry/clinical-chemistry-trainee-council/pearls-of-laboratory-medicine-in-english/2019/maple-syrup-urine-disease-and-other-disorders-of-branched-chain-amino-acid-catabolism

  MSUD is inherited in an autosomal recessive fashion and estimated to have a worldwide prevalence of 1 in 185,000, with an increased frequency in Mennonite populations. […] The management of MSUD is primarily based on dietary control of BCAA intake and prevention of catabolic crises by nutritional supplementation. The goals of dietary management are to reduce plasma leucine concentration while introducing additional valine and isoleucine to promote anabolism. This approach is therapeutic because valine and isoleucine are typically well-tolerated in MSUD, whereas leucine imparts the majority of neurological manifestations of the disease. […] During times of acute metabolic crises, which can be precipitated by stress, trauma/surgery, or noncompliance with dietary regimens, emergency protocols are focused on quickly promoting return to an anabolic state. This is achieved by increasing BCAA-free formula intake and decreasing leucine consumption beyond normal restrictions.

• #4 Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03533-6

  Maple Syrup Urine Disease (MSUD) happens in about 1 in 86,800 to 185,000 live births. […] The treatment includes a protein-restricted diet and supplementation with a specialized formula containing essential amino acids (excluding BCAA) and micronutrients to prevent the onset of neurological symptoms. […] Access to laboratory facilities and essential therapeutic resources, such as formulas, special food, and pure amino acids, varies in each country. […] The general principles of treatment include the following: Stop natural protein intake, Hydration and calorie supply, Correcting metabolic abnormalities, Toxin removal, Finding the underlying cause of the metabolic crisis, Cofactor treatment, Minimizing complications. […] Every patient who is highly suspicious of MSUD according to plasma amino acid levels should be treated immediately.

• #5 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  People with maple syrup urine disease (MSUD) cant break down three specific amino acids found in protein-containing foods. […] Without medical management, MSUD can lead to a wide range of intellectual and physical disabilities. It can be fatal without proper management. […] Seek immediate treatment if you see signs of MSUD in your child. Without prompt care, MSUD can cause serious complications, including developmental delays and even death. […] Healthcare providers manage MSUD by controlling the level of the three amino acids (leucine, isoleucine and valine) in your body and providing emergency treatment to reverse a metabolic crisis if one arises. […] You or your child will need to follow a strict diet that provides essential nutrients but limits the amounts of the three amino acids. This means youll need to limit your protein.

• #6 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Maple syrup urine disease is a rare inherited disorder caused by the bodys inability to properly process amino acids, leading to a characteristic odor of maple syrup in the baby’s urine. If not diagnosed and treated soon after birth, maple syrup urine disease (MSUD) can be life threatening as early as the first two weeks of life. […] Therefore, early detection and treatment essential. In most cases, MSUD can be successfully managed with a specialized diet that breaks down the three specific amino acids leucine, isoleucine and valine preventing them and their toxic by-products from accumulating abnormally in the blood. […] MSUD can cause irreversible metabolic damage and be life-limiting. For these reasons, its important to diagnose the disease as soon as possible and begin treatment. […] Treatment for MSUD includes: A life-long protein-restricted diet to promote proper growth and development, and prevent amino acid buildup.

• #7

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Maple syrup urine disease, or MSUD, is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. […] If MSUD is not treated promptly, it can lead to long-term health problems including brain damage, severe learning and physical difficulties, and behavioural problems. […] The local hospital will start appropriate treatment for MSUD and arrange transfer to the metabolic specialist centre for further management. […] It is very important to bring down the high leucine levels in their blood as quickly as possible. […] To do this, breast feeds and normal infant formula will be stopped temporarily and your baby will be started on a specialised MSUD infant formula which does not contain leucine, isoleucine or valine. […] The aim of the diet is to prevent the build-up of leucine and other harmful substances.

• #8 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  If youre feeding a newborn with classic MSUD, youll need to use a formula rich in essential nutrients but lacking the three amino acids. […] Youll need to get to a hospital immediately if youre experiencing symptoms of a metabolic crisis. […] Since 2004, liver transplants have successfully treated people with classic MSUD. […] A liver transplant includes complications like any surgery, including bleeding, infection and blood clots. […] If your baby or child shows signs of MSUD, you should seek immediate medical care. […] Taking fast action can prevent complications and save your childs life. If youre living with an MSUD diagnosis, take care to follow your nutritionists guidance on a meal plan thats healthy and safe.

• #9 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Babies diagnosed with MSUD should be switched to a synthetic baby formula that will provide them with all the nutrients they need but lack the specific amino acids that cause an abnormal buildup in their blood. Regular monitoring will be needed to ensure that amino acid levels remain within normal ranges. […] Patients with MSUD will require monitoring including routine physical examinations, follow-up blood and urine tests, as well as periodic assessment of liver functions. […] The risk of metabolic crisis remains even for those patients strictly following a specialized diet and prescribed therapies. In some cases, patients may require hemodialysis or hemofiltration to remove waste, certain fluids, and specific amino acids from the blood.

• #10 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Maple syrup urine disease is a rare inherited disorder caused by the bodys inability to properly process amino acids, leading to a characteristic odor of maple syrup in the baby’s urine. If not diagnosed and treated soon after birth, maple syrup urine disease (MSUD) can be life threatening as early as the first two weeks of life. […] Therefore, early detection and treatment essential. In most cases, MSUD can be successfully managed with a specialized diet that breaks down the three specific amino acids leucine, isoleucine and valine preventing them and their toxic by-products from accumulating abnormally in the blood. […] MSUD can cause irreversible metabolic damage and be life-limiting. For these reasons, its important to diagnose the disease as soon as possible and begin treatment. […] Treatment for MSUD includes: A life-long protein-restricted diet to promote proper growth and development, and prevent amino acid buildup.

• #11

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Maple syrup urine disease, or MSUD, is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. […] If MSUD is not treated promptly, it can lead to long-term health problems including brain damage, severe learning and physical difficulties, and behavioural problems. […] The local hospital will start appropriate treatment for MSUD and arrange transfer to the metabolic specialist centre for further management. […] It is very important to bring down the high leucine levels in their blood as quickly as possible. […] To do this, breast feeds and normal infant formula will be stopped temporarily and your baby will be started on a specialised MSUD infant formula which does not contain leucine, isoleucine or valine. […] The aim of the diet is to prevent the build-up of leucine and other harmful substances.

• #12 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Babies diagnosed with MSUD should be switched to a synthetic baby formula that will provide them with all the nutrients they need but lack the specific amino acids that cause an abnormal buildup in their blood. Regular monitoring will be needed to ensure that amino acid levels remain within normal ranges. […] Patients with MSUD will require monitoring including routine physical examinations, follow-up blood and urine tests, as well as periodic assessment of liver functions. […] The risk of metabolic crisis remains even for those patients strictly following a specialized diet and prescribed therapies. In some cases, patients may require hemodialysis or hemofiltration to remove waste, certain fluids, and specific amino acids from the blood.

• #13 Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03533-6

  Maple Syrup Urine Disease (MSUD) happens in about 1 in 86,800 to 185,000 live births. […] The treatment includes a protein-restricted diet and supplementation with a specialized formula containing essential amino acids (excluding BCAA) and micronutrients to prevent the onset of neurological symptoms. […] Access to laboratory facilities and essential therapeutic resources, such as formulas, special food, and pure amino acids, varies in each country. […] The general principles of treatment include the following: Stop natural protein intake, Hydration and calorie supply, Correcting metabolic abnormalities, Toxin removal, Finding the underlying cause of the metabolic crisis, Cofactor treatment, Minimizing complications. […] Every patient who is highly suspicious of MSUD according to plasma amino acid levels should be treated immediately.

• #14

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Your baby will have weekly blood tests during the first year. […] Following the dietetic instructions is very important for your babys health. […] If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation). […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. […] The emergency regimen is made up of MSUD specialist infant formula, isoleucine and valine supplements, and glucose polymer powder. […] You should start the emergency regimen if your baby becomes unwell or is not tolerating their usual feeds. […] The metabolic team will teach you how to look after your child during illness.

• #15 Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03533-6

  During fever, surgery, or any infectious disease or stress, there is a possibility of a sudden increase in leucine, acidosis, hypoglycemia, and a decrease in consciousness. […] The primary goals in treating MSUD are to manage diet by: Reducing BCAAs (Limited high protein foods and the diet is supplemented with leucine, valine, and isoleucine-free amino acids), Provide adequate macronutrients to prevent catabolism, Maintain plasma BCAAs within targeted treatment ranges. […] Every infant with MSUD should be hospitalized at the beginning of treatment so that his/her clinical evaluation is done completely his/her tolerance to nutritional recommendations is evaluated and parents are well educated about nutrition and the course of treatment.

• #16 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Observation: Your medical professionals will keep an eye on you if you have MSUD to make sure the three amino acids don’t become too much for you to handle. Periodic blood and urine tests will be necessary to track your levels. Depending on the results of the test, your doctor might advise you to modify your diet. […] Complications: If MSUD is not identified and treated in a timely manner, serious consequences could occur. Acute illness that results in an unanticipated surge in branched-chain amino acid levels can occur in patients adhering to a treatment regimen. The onset of clinical symptoms such excessive exhaustion, irritability and vomiting, and loss of awareness typically signals the onset of this metabolic crisis. […] Recommended Intensive Care Unit Surveillance: Laboratory monitoring for patients with acute exacerbations receiving care in the critical care unit should comprise: Serum glucose: Measured every 4 to 6 hours, Electrolytes and serum osmolality: Measured every 6 to 12 hours, Serum phosphorus, magnesium, and plasma amino acids: Measured every 12 to 24 hours, Serum amylase, transaminases, and lipase: Measured every 24 to 48 hours.

• #17 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Observation: Your medical professionals will keep an eye on you if you have MSUD to make sure the three amino acids don’t become too much for you to handle. Periodic blood and urine tests will be necessary to track your levels. Depending on the results of the test, your doctor might advise you to modify your diet. […] Complications: If MSUD is not identified and treated in a timely manner, serious consequences could occur. Acute illness that results in an unanticipated surge in branched-chain amino acid levels can occur in patients adhering to a treatment regimen. The onset of clinical symptoms such excessive exhaustion, irritability and vomiting, and loss of awareness typically signals the onset of this metabolic crisis. […] Recommended Intensive Care Unit Surveillance: Laboratory monitoring for patients with acute exacerbations receiving care in the critical care unit should comprise: Serum glucose: Measured every 4 to 6 hours, Electrolytes and serum osmolality: Measured every 6 to 12 hours, Serum phosphorus, magnesium, and plasma amino acids: Measured every 12 to 24 hours, Serum amylase, transaminases, and lipase: Measured every 24 to 48 hours.

• #18 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Observation: Your medical professionals will keep an eye on you if you have MSUD to make sure the three amino acids don’t become too much for you to handle. Periodic blood and urine tests will be necessary to track your levels. Depending on the results of the test, your doctor might advise you to modify your diet. […] Complications: If MSUD is not identified and treated in a timely manner, serious consequences could occur. Acute illness that results in an unanticipated surge in branched-chain amino acid levels can occur in patients adhering to a treatment regimen. The onset of clinical symptoms such excessive exhaustion, irritability and vomiting, and loss of awareness typically signals the onset of this metabolic crisis. […] Recommended Intensive Care Unit Surveillance: Laboratory monitoring for patients with acute exacerbations receiving care in the critical care unit should comprise: Serum glucose: Measured every 4 to 6 hours, Electrolytes and serum osmolality: Measured every 6 to 12 hours, Serum phosphorus, magnesium, and plasma amino acids: Measured every 12 to 24 hours, Serum amylase, transaminases, and lipase: Measured every 24 to 48 hours.

• #19 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Observation: Your medical professionals will keep an eye on you if you have MSUD to make sure the three amino acids don’t become too much for you to handle. Periodic blood and urine tests will be necessary to track your levels. Depending on the results of the test, your doctor might advise you to modify your diet. […] Complications: If MSUD is not identified and treated in a timely manner, serious consequences could occur. Acute illness that results in an unanticipated surge in branched-chain amino acid levels can occur in patients adhering to a treatment regimen. The onset of clinical symptoms such excessive exhaustion, irritability and vomiting, and loss of awareness typically signals the onset of this metabolic crisis. […] Recommended Intensive Care Unit Surveillance: Laboratory monitoring for patients with acute exacerbations receiving care in the critical care unit should comprise: Serum glucose: Measured every 4 to 6 hours, Electrolytes and serum osmolality: Measured every 6 to 12 hours, Serum phosphorus, magnesium, and plasma amino acids: Measured every 12 to 24 hours, Serum amylase, transaminases, and lipase: Measured every 24 to 48 hours.

• #20 Maple syrup urine disease | Handouts | MedLink Neurology

  https://www.medlink.com/handouts/maple-syrup-urine-disease

  Initial treatment of a neonate with MSUD requires a prompt reduction in the levels of the BCAAs. High levels of leucine are very toxic and can lead to brain injury resulting in mental retardation, neurological difficulties in walking and speech, seizures or death. […] Long-term treatment of MSUD involves a carefully controlled diet which strictly limits dietary protein in order to prevent the accumulation of BCAAs in the blood. […] The sick day plan is designed to keep a child out of the hospital. The main focus of the sick day regimen is to provide adequate calories and amino acids to meet the body’s needs and to use up the excess BCAAs in the blood by promoting protein synthesis. […] Cerebral edema is a major concern in managing MSUD. Cerebral edema is the accumulation of excess fluid on the brain caused by an imbalance between electrolytes and the amino acids.

• #21 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Babies diagnosed with MSUD should be switched to a synthetic baby formula that will provide them with all the nutrients they need but lack the specific amino acids that cause an abnormal buildup in their blood. Regular monitoring will be needed to ensure that amino acid levels remain within normal ranges. […] Patients with MSUD will require monitoring including routine physical examinations, follow-up blood and urine tests, as well as periodic assessment of liver functions. […] The risk of metabolic crisis remains even for those patients strictly following a specialized diet and prescribed therapies. In some cases, patients may require hemodialysis or hemofiltration to remove waste, certain fluids, and specific amino acids from the blood.

• #22 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. […] The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs). […] Consultation with a neonatal/pediatric nutritionist with expertise in dietary management of metabolic disorders is required to address medical nutrition therapy immediately. […] The goals of medical nutrition therapy in maple syrup urine disease are multifaceted, as follows: To rapidly reduce toxic metabolites by restricting dietary BCAAs to amounts allowing patients to achieve and maintain plasma BCAA concentrations within the targeted treatment ranges, to reduce catabolism, to promote anabolism, to monitor nutritional status and alter intake to promote and sustain normal growth, to enable normal development and health maintenance, to evaluate thiamine responsiveness if the patient has residual BCKD activity and to administer thiamine supplements if the patient is responsive.

• #23 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. […] The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs). […] Consultation with a neonatal/pediatric nutritionist with expertise in dietary management of metabolic disorders is required to address medical nutrition therapy immediately. […] The goals of medical nutrition therapy in maple syrup urine disease are multifaceted, as follows: To rapidly reduce toxic metabolites by restricting dietary BCAAs to amounts allowing patients to achieve and maintain plasma BCAA concentrations within the targeted treatment ranges, to reduce catabolism, to promote anabolism, to monitor nutritional status and alter intake to promote and sustain normal growth, to enable normal development and health maintenance, to evaluate thiamine responsiveness if the patient has residual BCKD activity and to administer thiamine supplements if the patient is responsive.

• #24 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Monitoring BCAA plasma concentrations is necessary to guide appropriate diet adjustments during the illness. […] Special attention and care should be provided to young adults with MSUD who are beginning to take on more responsibilities regarding their health. […] One of the primary goals in treating MSUD is to manage diet by reducing BCAAs and provide adequate macronutrients to prevent catabolism and help maintain plasma BCAAs within targeted treatment ranges. […] Nutrition management consists of BCAA-free medical food specially formulated to provide 80%-90% of protein needs, and a majority of energy and micronutrient necessities throughout life.

• #25 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. […] The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs). […] Consultation with a neonatal/pediatric nutritionist with expertise in dietary management of metabolic disorders is required to address medical nutrition therapy immediately. […] The goals of medical nutrition therapy in maple syrup urine disease are multifaceted, as follows: To rapidly reduce toxic metabolites by restricting dietary BCAAs to amounts allowing patients to achieve and maintain plasma BCAA concentrations within the targeted treatment ranges, to reduce catabolism, to promote anabolism, to monitor nutritional status and alter intake to promote and sustain normal growth, to enable normal development and health maintenance, to evaluate thiamine responsiveness if the patient has residual BCKD activity and to administer thiamine supplements if the patient is responsive.

• #26 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. […] The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs). […] Consultation with a neonatal/pediatric nutritionist with expertise in dietary management of metabolic disorders is required to address medical nutrition therapy immediately. […] The goals of medical nutrition therapy in maple syrup urine disease are multifaceted, as follows: To rapidly reduce toxic metabolites by restricting dietary BCAAs to amounts allowing patients to achieve and maintain plasma BCAA concentrations within the targeted treatment ranges, to reduce catabolism, to promote anabolism, to monitor nutritional status and alter intake to promote and sustain normal growth, to enable normal development and health maintenance, to evaluate thiamine responsiveness if the patient has residual BCKD activity and to administer thiamine supplements if the patient is responsive.

• #27 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. […] The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs). […] Consultation with a neonatal/pediatric nutritionist with expertise in dietary management of metabolic disorders is required to address medical nutrition therapy immediately. […] The goals of medical nutrition therapy in maple syrup urine disease are multifaceted, as follows: To rapidly reduce toxic metabolites by restricting dietary BCAAs to amounts allowing patients to achieve and maintain plasma BCAA concentrations within the targeted treatment ranges, to reduce catabolism, to promote anabolism, to monitor nutritional status and alter intake to promote and sustain normal growth, to enable normal development and health maintenance, to evaluate thiamine responsiveness if the patient has residual BCKD activity and to administer thiamine supplements if the patient is responsive.

• #28 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. […] The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs). […] Consultation with a neonatal/pediatric nutritionist with expertise in dietary management of metabolic disorders is required to address medical nutrition therapy immediately. […] The goals of medical nutrition therapy in maple syrup urine disease are multifaceted, as follows: To rapidly reduce toxic metabolites by restricting dietary BCAAs to amounts allowing patients to achieve and maintain plasma BCAA concentrations within the targeted treatment ranges, to reduce catabolism, to promote anabolism, to monitor nutritional status and alter intake to promote and sustain normal growth, to enable normal development and health maintenance, to evaluate thiamine responsiveness if the patient has residual BCKD activity and to administer thiamine supplements if the patient is responsive.

• #29 Maple Syrup Urine Disease (MSUD)

  https://www.nutricia.com/specialize/iem/msud.html

  MSUD is effectively managed by lifelong adherence to a strict low-protein diet consisting of: Foods naturally low in protein, MSUD protein substitutes, specially manufactured low protein products (e.g. rice replacer and milk replacer) and BCAA amino acid supplements. […] To monitor and maintain the correct amino acid intake, your medical care team will regularly assess blood samples and recommend dietary adjustments as the patient matures.

• #30 Maple Syrup Urine Disease (MSUD)

  https://www.nutricia.com/specialize/iem/msud.html

  MSUD is effectively managed by lifelong adherence to a strict low-protein diet consisting of: Foods naturally low in protein, MSUD protein substitutes, specially manufactured low protein products (e.g. rice replacer and milk replacer) and BCAA amino acid supplements. […] To monitor and maintain the correct amino acid intake, your medical care team will regularly assess blood samples and recommend dietary adjustments as the patient matures.

• #31 Maple Syrup Urine Disease (MSUD)

  https://www.nutricia.com/specialize/iem/msud.html

  MSUD is effectively managed by lifelong adherence to a strict low-protein diet consisting of: Foods naturally low in protein, MSUD protein substitutes, specially manufactured low protein products (e.g. rice replacer and milk replacer) and BCAA amino acid supplements. […] To monitor and maintain the correct amino acid intake, your medical care team will regularly assess blood samples and recommend dietary adjustments as the patient matures.

• #32 Maple Syrup Urine Disease (MSUD)

  https://www.nutricia.com/specialize/iem/msud.html

  MSUD is effectively managed by lifelong adherence to a strict low-protein diet consisting of: Foods naturally low in protein, MSUD protein substitutes, specially manufactured low protein products (e.g. rice replacer and milk replacer) and BCAA amino acid supplements. […] To monitor and maintain the correct amino acid intake, your medical care team will regularly assess blood samples and recommend dietary adjustments as the patient matures.

• #33 Maple Syrup Urine Disease (MSUD)

  https://www.nutricia.com/specialize/iem/msud.html

  MSUD is effectively managed by lifelong adherence to a strict low-protein diet consisting of: Foods naturally low in protein, MSUD protein substitutes, specially manufactured low protein products (e.g. rice replacer and milk replacer) and BCAA amino acid supplements. […] To monitor and maintain the correct amino acid intake, your medical care team will regularly assess blood samples and recommend dietary adjustments as the patient matures.

• #34 Maple Syrup Urine Disease (MSUD) | Health Care Provider’s Guide to Breastfeeding

  https://hcpbreastfeeding.com/resource-center/maple-syrup-urine-disease-msud

  Breastfeeding is not contraindicated. Infant should be monitored by a metabolic dietitian. […] Appropriate supplementation to breastmilk is needed.

• #35

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Maple syrup urine disease, or MSUD, is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. […] If MSUD is not treated promptly, it can lead to long-term health problems including brain damage, severe learning and physical difficulties, and behavioural problems. […] The local hospital will start appropriate treatment for MSUD and arrange transfer to the metabolic specialist centre for further management. […] It is very important to bring down the high leucine levels in their blood as quickly as possible. […] To do this, breast feeds and normal infant formula will be stopped temporarily and your baby will be started on a specialised MSUD infant formula which does not contain leucine, isoleucine or valine. […] The aim of the diet is to prevent the build-up of leucine and other harmful substances.

• #36 Newborn Screening Program – Maple Syrup Urine Disease

  http://www.idph.state.il.us/healthwellness/fs/msud.htm

  Maple syrup urine disease (MSUD) is an inherited disorder of amino acid metabolism, caused by a deficiency in an enzyme complex that results in defects in the catabolism of the amino acids leucine, isoleucine and valine. […] Early diagnosis and prompt treatment can significantly affect prognosis. Individuals with MSUD need a life-long diet restricted in branched-chain amino acids, and supplemented with vitamin B 1 (thiamine). During periods of metabolic decompensation, peritoneal dialysis and/or treatment with intra-venous hyperalimentation without branched-chain amino acids (leucine, isoleucine, valine) may be necessary. […] Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development. […] Infants and children with MSUD should have regular follow-up appointments with a metabolic disease specialist.

• #37 Maple Syrup Urine Disease (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/msud.html

  Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening. This lets doctors start treatment, usually with a special diet, right away to help prevent problems. […] The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, theyll follow the special diet for the rest of their lives. Some also need to take nutritional supplements. Following this diet will help prevent the problems linked to MSUD. […] Your doctor will do regular checks of the amino acid levels in your child’s blood. Working with the health care team, including a dietitian who specializes in metabolic disorders like MSUD, can help keep these levels in an acceptable range.

• #38 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  The two main approaches to the treatment of maple syrup urine disease (MSUD) include (1) long-term daily dietary management and (2) treatment of episodes of acute metabolic decompensation. […] The mainstay in the treatment of maple syrup urine disease is dietary restriction of branched-chain amino acids (BCAAs). […] Consultation with a neonatal/pediatric nutritionist with expertise in dietary management of metabolic disorders is required to address medical nutrition therapy immediately. […] The goals of medical nutrition therapy in maple syrup urine disease are multifaceted, as follows: To rapidly reduce toxic metabolites by restricting dietary BCAAs to amounts allowing patients to achieve and maintain plasma BCAA concentrations within the targeted treatment ranges, to reduce catabolism, to promote anabolism, to monitor nutritional status and alter intake to promote and sustain normal growth, to enable normal development and health maintenance, to evaluate thiamine responsiveness if the patient has residual BCKD activity and to administer thiamine supplements if the patient is responsive.

• #39 Maple Syrup Urine Disease (MSUD) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/maple-syrup-urine-disease-msud

  Babies diagnosed with MSUD should be switched to a synthetic baby formula that will provide them with all the nutrients they need but lack the specific amino acids that cause an abnormal buildup in their blood. Regular monitoring will be needed to ensure that amino acid levels remain within normal ranges. […] Patients with MSUD will require monitoring including routine physical examinations, follow-up blood and urine tests, as well as periodic assessment of liver functions. […] The risk of metabolic crisis remains even for those patients strictly following a specialized diet and prescribed therapies. In some cases, patients may require hemodialysis or hemofiltration to remove waste, certain fluids, and specific amino acids from the blood.

• #40 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #41 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #42

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Your baby will have weekly blood tests during the first year. […] Following the dietetic instructions is very important for your babys health. […] If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation). […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. […] The emergency regimen is made up of MSUD specialist infant formula, isoleucine and valine supplements, and glucose polymer powder. […] You should start the emergency regimen if your baby becomes unwell or is not tolerating their usual feeds. […] The metabolic team will teach you how to look after your child during illness.

• #43 Maple Syrup Urine Disease (MSUD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/msud

  All patients with MSUD in metabolic crisis should receive high caloric supplementation to achieve an anabolic state (125-150% of typical energy needs). […] If neurological signs develop or worsen (vomiting, lethargy, hyperreflexia, clonus), suspect cerebral edema. […] If cerebral edema is suspected, obtain brain CT or MRI. […] Acute metabolic decompensation in a patient with MSUD is almost always precipitated by a stressor, such as infection, injury, surgery, hormonal changes, or significant dietary changes (involving increased natural protein intake). […] Dietary treatment should only be done by or with the guidance of a metabolic physician and nutritionist.

• #44 Maple syrup urine disease

  https://www.nhs.uk/conditions/maple-syrup-urine-disease/

  If your child becomes ill, they might have an episode of a metabolic crisis. This can lead to serious illness and long-term brain damage, and can be life threatening. […] Your dietitian will provide detailed instructions for a low-protein diet and dietary supplements. This may include replacing milk and foods containing protein with special high-sugar drinks and taking amino acid supplements. […] Take your child to hospital if the symptoms of a metabolic crisis develop, if they cannot keep down their emergency diet and supplements, or they have repeated diarrhoea. […] A liver transplant is sometimes an option to treat MSUD. If a person with MSUD receives a donated liver, they’ll no longer be at risk of a metabolic crisis and can have a normal diet.

• #45 Maple Syrup Urine Disease – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/msud.html

  Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with. Its caused by a defect in the enzymes that break down some amino acids. […] Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening. This lets doctors start treatment, usually with a special diet, right away to help prevent problems. […] The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, theyll follow the special diet for the rest of their lives. Some also need to take nutritional supplements. Following this diet will help prevent the problems linked to MSUD. […] Your doctor will do regular checks of the amino acid levels in your child’s blood. Working with the health care team, including a dietitian who specializes in metabolic disorders like MSUD, can help keep these levels in an acceptable range. […] Maple syrup urine disease is treatable when found early. Doctors will closely watch kids who have it. […] Call your doctor right away if your child is sick, has a fever, is not eating well, or is very sleepy, or if you notice balance problems, trouble walking, or changes in behavior.

• #46 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #47 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #48 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #49 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #50 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #51 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #52 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #53 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #54 A child with maple syrup urine disease presents to the emergency … – Nursing Education

  https://nursingeducation.org/lms/questions/view/1169

  This patient presents with signs and symptoms of acute metabolic decompensation, namely vomiting, diarrhea, lethargy, and seizures. A patient with maple syrup urine disease must be kept out of a catabolic state, especially in times of stress. […] The patient must be immediately started on an intravenous dextrose infusion. An insulin infusion can be started to encourage an anabolic state, if the dextrose alone is ineffective. […] Intravenous lipids are a good option for long-term nutrition, but not effective acutely.

• #55 Maple Syrup Urine Disease – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/msud.html

  Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with. Its caused by a defect in the enzymes that break down some amino acids. […] Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening. This lets doctors start treatment, usually with a special diet, right away to help prevent problems. […] The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, theyll follow the special diet for the rest of their lives. Some also need to take nutritional supplements. Following this diet will help prevent the problems linked to MSUD. […] Your doctor will do regular checks of the amino acid levels in your child’s blood. Working with the health care team, including a dietitian who specializes in metabolic disorders like MSUD, can help keep these levels in an acceptable range. […] Maple syrup urine disease is treatable when found early. Doctors will closely watch kids who have it. […] Call your doctor right away if your child is sick, has a fever, is not eating well, or is very sleepy, or if you notice balance problems, trouble walking, or changes in behavior.

• #56 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #57 Maple Syrup Urine Disease (MSUD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/msud

  The acute illness materials are meant as a guideline for healthcare professionals treating the sick infant or child who is known to have maple syrup urine disease (MSUD). […] It is important to listen to the parents insight into their childs illness. […] We recognize that many who access this protocol will not be at a metabolic center and, therefore, not have access to the specific MSUD products required for therapy nor the availability of an immediate amino acid analysis or hemodialysis described below. Should this be the case, we recommend that a patient with MSUD with signs of cerebral edema be stabilized as described below with rehydration and immediately transported to the nearest metabolic center. […] All natural protein intake (e.g., breastfeeding, infant formulas) should be halted in the setting of a metabolic crisis. A specialized BCAA-free MSUD formula should be started as soon as possible; this is key to lowering leucine levels.

• #58 Maple Syrup Urine Disease (MSUD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/msud

  The acute illness materials are meant as a guideline for healthcare professionals treating the sick infant or child who is known to have maple syrup urine disease (MSUD). […] It is important to listen to the parents insight into their childs illness. […] We recognize that many who access this protocol will not be at a metabolic center and, therefore, not have access to the specific MSUD products required for therapy nor the availability of an immediate amino acid analysis or hemodialysis described below. Should this be the case, we recommend that a patient with MSUD with signs of cerebral edema be stabilized as described below with rehydration and immediately transported to the nearest metabolic center. […] All natural protein intake (e.g., breastfeeding, infant formulas) should be halted in the setting of a metabolic crisis. A specialized BCAA-free MSUD formula should be started as soon as possible; this is key to lowering leucine levels.

• #59 Maple Syrup Urine Disease (MSUD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/msud

  The acute illness materials are meant as a guideline for healthcare professionals treating the sick infant or child who is known to have maple syrup urine disease (MSUD). […] It is important to listen to the parents insight into their childs illness. […] We recognize that many who access this protocol will not be at a metabolic center and, therefore, not have access to the specific MSUD products required for therapy nor the availability of an immediate amino acid analysis or hemodialysis described below. Should this be the case, we recommend that a patient with MSUD with signs of cerebral edema be stabilized as described below with rehydration and immediately transported to the nearest metabolic center. […] All natural protein intake (e.g., breastfeeding, infant formulas) should be halted in the setting of a metabolic crisis. A specialized BCAA-free MSUD formula should be started as soon as possible; this is key to lowering leucine levels.

• #60 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #61 A child with maple syrup urine disease presents to the emergency … – Nursing Education

  https://nursingeducation.org/lms/questions/view/1169

  This patient presents with signs and symptoms of acute metabolic decompensation, namely vomiting, diarrhea, lethargy, and seizures. A patient with maple syrup urine disease must be kept out of a catabolic state, especially in times of stress. […] The patient must be immediately started on an intravenous dextrose infusion. An insulin infusion can be started to encourage an anabolic state, if the dextrose alone is ineffective. […] Intravenous lipids are a good option for long-term nutrition, but not effective acutely.

• #62 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #63 A child with maple syrup urine disease presents to the emergency … – Nursing Education

  https://nursingeducation.org/lms/questions/view/1169

  This patient presents with signs and symptoms of acute metabolic decompensation, namely vomiting, diarrhea, lethargy, and seizures. A patient with maple syrup urine disease must be kept out of a catabolic state, especially in times of stress. […] The patient must be immediately started on an intravenous dextrose infusion. An insulin infusion can be started to encourage an anabolic state, if the dextrose alone is ineffective. […] Intravenous lipids are a good option for long-term nutrition, but not effective acutely.

• #64 Maple Syrup Urine Disease (MSUD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/msud

  All patients with MSUD in metabolic crisis should receive high caloric supplementation to achieve an anabolic state (125-150% of typical energy needs). […] If neurological signs develop or worsen (vomiting, lethargy, hyperreflexia, clonus), suspect cerebral edema. […] If cerebral edema is suspected, obtain brain CT or MRI. […] Acute metabolic decompensation in a patient with MSUD is almost always precipitated by a stressor, such as infection, injury, surgery, hormonal changes, or significant dietary changes (involving increased natural protein intake). […] Dietary treatment should only be done by or with the guidance of a metabolic physician and nutritionist.

• #65 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Monitoring BCAA plasma concentrations is necessary to guide appropriate diet adjustments during the illness. […] Special attention and care should be provided to young adults with MSUD who are beginning to take on more responsibilities regarding their health. […] One of the primary goals in treating MSUD is to manage diet by reducing BCAAs and provide adequate macronutrients to prevent catabolism and help maintain plasma BCAAs within targeted treatment ranges. […] Nutrition management consists of BCAA-free medical food specially formulated to provide 80%-90% of protein needs, and a majority of energy and micronutrient necessities throughout life.

• #66 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #67 HIE Multimedia – Maple syrup urine disease

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=000373

  When the condition is diagnosed, and during episodes, treatment involves eating a protein-free diet. Fluids, sugars, and sometimes fats are given through a vein (IV). Dialysis through your belly or a vein can be done to reduce the level of abnormal substances in your blood. […] Long-term treatment requires a special diet. For infants, the diet includes a formula with low levels of the amino acids leucine, isoleucine, and valine. People with this condition must remain on a diet low in these amino acids for life. […] It is very important to always follow this diet to prevent nervous system (neurological) damage. This requires frequent blood tests and close supervision by a registered dietitian and physician, as well as cooperation by parents of children with the condition.

• #68 Maple Syrup Urine Disease (MSUD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/msud

  All patients with MSUD in metabolic crisis should receive high caloric supplementation to achieve an anabolic state (125-150% of typical energy needs). […] If neurological signs develop or worsen (vomiting, lethargy, hyperreflexia, clonus), suspect cerebral edema. […] If cerebral edema is suspected, obtain brain CT or MRI. […] Acute metabolic decompensation in a patient with MSUD is almost always precipitated by a stressor, such as infection, injury, surgery, hormonal changes, or significant dietary changes (involving increased natural protein intake). […] Dietary treatment should only be done by or with the guidance of a metabolic physician and nutritionist.

• #69 Maple syrup urine disease | Handouts | MedLink Neurology

  https://www.medlink.com/handouts/maple-syrup-urine-disease

  Initial treatment of a neonate with MSUD requires a prompt reduction in the levels of the BCAAs. High levels of leucine are very toxic and can lead to brain injury resulting in mental retardation, neurological difficulties in walking and speech, seizures or death. […] Long-term treatment of MSUD involves a carefully controlled diet which strictly limits dietary protein in order to prevent the accumulation of BCAAs in the blood. […] The sick day plan is designed to keep a child out of the hospital. The main focus of the sick day regimen is to provide adequate calories and amino acids to meet the body’s needs and to use up the excess BCAAs in the blood by promoting protein synthesis. […] Cerebral edema is a major concern in managing MSUD. Cerebral edema is the accumulation of excess fluid on the brain caused by an imbalance between electrolytes and the amino acids.

• #70 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Acute dietary treatment needs to be aggressive and include sufficient energy (up to 150% of the normal energy consumption), based on BCAA-free formula and fluid administration (up to 150 mL/kg). […] Management strategies in adults are similar to those in children in that the primary goals are to 1) stop protein intake for 24-72 hours, 2) provide hydration and calorific support, 3) correct any metabolic abnormalities, 4) eliminate toxic metabolites, 5) address the underlying cause of the metabolic crisis, 6) consider cofactor supplementation, and 7) minimize associated clinical sequelae. […] The sick day protocol usually entails guidelines on increasing BCAA-free amino acid formula intake to 120% of the usual intake, decreasing leucine intake by 50%-100%, and providing small but frequent feedings throughout a 24 hour period.

• #71 Maple syrup urine disease type Ib | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ib/

  MSUD type Ib is primarily controlled by diet; patients control it primarily by eating only foods low in protein. This often means severe restrictions on meat, fish, eggs, dairy foods, whole grain flour, beans, and nuts. […] Management is also key to proper treatment. Amino-acid levels in the blood should be monitored regularly by a physician. Blood-test findings can help to calibrate the diet and are particularly important during pregnancy for a mother with MSUD. […] Illnesses should always prompt a consultation with a physician, as these are vulnerable periods for an individual with MSUD type Ib. He or she may need a special “sick-day diet” to avoid hospital stays. […] If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, individuals with MSUD type Ib can live healthy lives into adulthood and show normal growth and mental development. It is particularly critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability.

• #72 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Acute dietary treatment needs to be aggressive and include sufficient energy (up to 150% of the normal energy consumption), based on BCAA-free formula and fluid administration (up to 150 mL/kg). […] Management strategies in adults are similar to those in children in that the primary goals are to 1) stop protein intake for 24-72 hours, 2) provide hydration and calorific support, 3) correct any metabolic abnormalities, 4) eliminate toxic metabolites, 5) address the underlying cause of the metabolic crisis, 6) consider cofactor supplementation, and 7) minimize associated clinical sequelae. […] The sick day protocol usually entails guidelines on increasing BCAA-free amino acid formula intake to 120% of the usual intake, decreasing leucine intake by 50%-100%, and providing small but frequent feedings throughout a 24 hour period.

• #73 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Acute dietary treatment needs to be aggressive and include sufficient energy (up to 150% of the normal energy consumption), based on BCAA-free formula and fluid administration (up to 150 mL/kg). […] Management strategies in adults are similar to those in children in that the primary goals are to 1) stop protein intake for 24-72 hours, 2) provide hydration and calorific support, 3) correct any metabolic abnormalities, 4) eliminate toxic metabolites, 5) address the underlying cause of the metabolic crisis, 6) consider cofactor supplementation, and 7) minimize associated clinical sequelae. […] The sick day protocol usually entails guidelines on increasing BCAA-free amino acid formula intake to 120% of the usual intake, decreasing leucine intake by 50%-100%, and providing small but frequent feedings throughout a 24 hour period.

• #74 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Acute dietary treatment needs to be aggressive and include sufficient energy (up to 150% of the normal energy consumption), based on BCAA-free formula and fluid administration (up to 150 mL/kg). […] Management strategies in adults are similar to those in children in that the primary goals are to 1) stop protein intake for 24-72 hours, 2) provide hydration and calorific support, 3) correct any metabolic abnormalities, 4) eliminate toxic metabolites, 5) address the underlying cause of the metabolic crisis, 6) consider cofactor supplementation, and 7) minimize associated clinical sequelae. […] The sick day protocol usually entails guidelines on increasing BCAA-free amino acid formula intake to 120% of the usual intake, decreasing leucine intake by 50%-100%, and providing small but frequent feedings throughout a 24 hour period.

• #75 Maple syrup urine disease: mechanisms and management | TACG

  https://www.dovepress.com/maple-syrup-urine-disease-mechanisms-and-management-peer-reviewed-fulltext-article-TACG

  Monitoring BCAA plasma concentrations is necessary to guide appropriate diet adjustments during the illness. […] Special attention and care should be provided to young adults with MSUD who are beginning to take on more responsibilities regarding their health. […] One of the primary goals in treating MSUD is to manage diet by reducing BCAAs and provide adequate macronutrients to prevent catabolism and help maintain plasma BCAAs within targeted treatment ranges. […] Nutrition management consists of BCAA-free medical food specially formulated to provide 80%-90% of protein needs, and a majority of energy and micronutrient necessities throughout life.

• #76

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Your baby will have weekly blood tests during the first year. […] Following the dietetic instructions is very important for your babys health. […] If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation). […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. […] The emergency regimen is made up of MSUD specialist infant formula, isoleucine and valine supplements, and glucose polymer powder. […] You should start the emergency regimen if your baby becomes unwell or is not tolerating their usual feeds. […] The metabolic team will teach you how to look after your child during illness.

• #77 Maple syrup urine disease | Handouts | MedLink Neurology

  https://www.medlink.com/handouts/maple-syrup-urine-disease

  With strict dietary compliance and good medical care, children with MSUD can, and do, lead relatively normal lives. […] Careful control of the diet to insure the correct balance of the amino acid levels is the best strategy for the optimal function of persons with MSUD. […] It is very important that children with MSUD are not given aspirin or products containing aspirin.

• #78 Newborn Screening Program – Maple Syrup Urine Disease

  http://www.idph.state.il.us/healthwellness/fs/msud.htm

  Maple syrup urine disease (MSUD) is an inherited disorder of amino acid metabolism, caused by a deficiency in an enzyme complex that results in defects in the catabolism of the amino acids leucine, isoleucine and valine. […] Early diagnosis and prompt treatment can significantly affect prognosis. Individuals with MSUD need a life-long diet restricted in branched-chain amino acids, and supplemented with vitamin B 1 (thiamine). During periods of metabolic decompensation, peritoneal dialysis and/or treatment with intra-venous hyperalimentation without branched-chain amino acids (leucine, isoleucine, valine) may be necessary. […] Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development. […] Infants and children with MSUD should have regular follow-up appointments with a metabolic disease specialist.

• #79 Newborn Screening Program – Maple Syrup Urine Disease

  http://www.idph.state.il.us/healthwellness/fs/msud.htm

  Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multi-disciplinary approach including the following specialties is recommended: pediatrics, genetics and nutrition. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. […] Genetic counseling services are recommended. A list of genetic counselors and geneticists whose services are available through the Illinois Department of Public Health should be given to the parents if they have not already seen a geneticist. […] Provide a list of available support services in the community, such as the local health department, Early Intervention service providers and the University of Illinois at Chicago Division of Specialized Care for Children (DSCC).

• #80 Newborn screening information for maple syrup urine disease | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/maple-syrup-urine-disease-msud

  Because MSUD is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for MSUD, and understand what this diagnosis means for other family members and future pregnancies. Speak with your baby’s doctor about getting a referral.

• #81 Newborn Screening Program – Maple Syrup Urine Disease

  http://www.idph.state.il.us/healthwellness/fs/msud.htm

  Maple syrup urine disease (MSUD) is an inherited disorder of amino acid metabolism, caused by a deficiency in an enzyme complex that results in defects in the catabolism of the amino acids leucine, isoleucine and valine. […] Early diagnosis and prompt treatment can significantly affect prognosis. Individuals with MSUD need a life-long diet restricted in branched-chain amino acids, and supplemented with vitamin B 1 (thiamine). During periods of metabolic decompensation, peritoneal dialysis and/or treatment with intra-venous hyperalimentation without branched-chain amino acids (leucine, isoleucine, valine) may be necessary. […] Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development. […] Infants and children with MSUD should have regular follow-up appointments with a metabolic disease specialist.

• #82

  https://www.gov.uk/government/publications/msud-suspected-description-in-brief/maple-syrup-urine-disease-msud-detailed-information

  Your baby will have weekly blood tests during the first year. […] Following the dietetic instructions is very important for your babys health. […] If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation). […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. […] The emergency regimen is made up of MSUD specialist infant formula, isoleucine and valine supplements, and glucose polymer powder. […] You should start the emergency regimen if your baby becomes unwell or is not tolerating their usual feeds. […] The metabolic team will teach you how to look after your child during illness.

• #83 MSUD (maple syrup urine disease) – newbornscreening.info

  https://www.newbornscreening.info/msud-maple-syrup-urine-disease/

  This fact sheet has information about MSUD. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be recommended for some children but not others. All children with MSUD should be followed by a metabolic doctor in addition to their primary doctor. […] Your babys doctor will work with a metabolic doctor and dietician to care for your child. […] Lifelong treatment with the MSUD diet is necessary. Children are at risk for episodes of metabolic crisis when they dont follow the diet. […] For children with MSUD, even minor illness can cause a metabolic crisis. In order to prevent problems, call your doctor right away when your child has any of the following: poor appetite, low energy or extreme sleepiness, vomiting, an infection or illness, a fever, behavior or personality changes, difficulty walking or balance problems.

• #84 Illness Plan for Maple Syrup Urine Disease (MSUD)

  https://www.massgeneral.org/children/metabolic-disorders/maple-syrup-urine-disease-acute-care-plan

  Maple syrup urine disease (MSUD) is genetic condition in which the body cannot break down certain amino acids in protein. It causes distinctive sweet-smelling urine. Learn a care plan if your child with MSUD gets sick. […] When a child with a metabolic condition gets sick, there are specific signs to look for that require further evaluation by a doctor, such as: […] Below are steps to provide acute care to patients with MSUD. […] There is a Genetics and Metabolism doctor available 24/7. You can reach them by calling 617-726-2000 (pager #26396). […] The doctor can talk with you if you are concerned about whether to bring your child to the emergency room. They can also help you figure out what to tell the doctors once you arrive to the emergency room.

• #85 Newborn Screening Program – Maple Syrup Urine Disease

  http://www.idph.state.il.us/healthwellness/fs/msud.htm

  Maple syrup urine disease (MSUD) is an inherited disorder of amino acid metabolism, caused by a deficiency in an enzyme complex that results in defects in the catabolism of the amino acids leucine, isoleucine and valine. […] Early diagnosis and prompt treatment can significantly affect prognosis. Individuals with MSUD need a life-long diet restricted in branched-chain amino acids, and supplemented with vitamin B 1 (thiamine). During periods of metabolic decompensation, peritoneal dialysis and/or treatment with intra-venous hyperalimentation without branched-chain amino acids (leucine, isoleucine, valine) may be necessary. […] Parents should understand that treatment is lifelong and that compliance with dietary management is imperative to the child’s health, growth and development. […] Infants and children with MSUD should have regular follow-up appointments with a metabolic disease specialist.

• #86 Newborn Screening Program – Maple Syrup Urine Disease

  http://www.idph.state.il.us/healthwellness/fs/msud.htm

  Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multi-disciplinary approach including the following specialties is recommended: pediatrics, genetics and nutrition. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. […] Genetic counseling services are recommended. A list of genetic counselors and geneticists whose services are available through the Illinois Department of Public Health should be given to the parents if they have not already seen a geneticist. […] Provide a list of available support services in the community, such as the local health department, Early Intervention service providers and the University of Illinois at Chicago Division of Specialized Care for Children (DSCC).

• #87 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #88 Maple Syrup Urine Disease | UPMC Children’s Hospital-Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/maple-syrup-urine-disease

  A newborn with MSUD will need a special formula. It has low levels of the three amino acids the body can’t break down. […] As children with MSUD grow, they must be on a special low-protein diet. Parents work directly with a nutritionist or specialist in child development. […] Children with MSUD may also need: Speech-language therapy to help with language delays. Physical or occupational therapy to help with mobility and everyday activities. Counseling to help manage conditions like anxiety and depression. […] UPMC Children’s also offers liver transplants for children with the most severe MSUD. […] If your child has maple syrup urine disease, we want you to know that you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help. […] You’ll have a care plan tailored to your child’s needs by the end of your visit. You’ll also have a follow-up visit in three months. […] You’ll meet our clinical nurse practitioner who can help you with any concerns between now and your next appointment.

• #89 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #90 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #91 Maple Syrup Urine Disease (MSUD) Treatment & Management: Medical Care, Surgical Care, Diet

  https://emedicine.medscape.com/article/946234-treatment

  Aggressively treat episodes of metabolic decompensation. […] Initiate intravenous glucose infusions (5-8 mg/kg/min for infants) as rapidly as possible. […] Insulin infusions may be added to promote anabolism. […] Stop intake of BCAAs but resume intake as soon as plasma BCAAs normalize. […] Whenever possible, continue additional dietary support, including lipids and/or nutrition free of BCAAs. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Follow up with the patient at regular intervals (ie, at least once every 6-12 mo) with a biochemical geneticist familiar with the management of maple syrup urine disease. […] Seek dietary guidance with a nutritionist knowledgeable in dietary management of metabolic disorders. […] Emphasize the importance of continuity of care with a pediatrician/developmental pediatrician to closely follow developmental milestones and neurocognitive function.

• #92 Maple Syrup Urine Disease | UPMC Children’s Hospital-Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/maple-syrup-urine-disease

  A newborn with MSUD will need a special formula. It has low levels of the three amino acids the body can’t break down. […] As children with MSUD grow, they must be on a special low-protein diet. Parents work directly with a nutritionist or specialist in child development. […] Children with MSUD may also need: Speech-language therapy to help with language delays. Physical or occupational therapy to help with mobility and everyday activities. Counseling to help manage conditions like anxiety and depression. […] UPMC Children’s also offers liver transplants for children with the most severe MSUD. […] If your child has maple syrup urine disease, we want you to know that you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help. […] You’ll have a care plan tailored to your child’s needs by the end of your visit. You’ll also have a follow-up visit in three months. […] You’ll meet our clinical nurse practitioner who can help you with any concerns between now and your next appointment.

• #93 Maple Syrup Urine Disease | UPMC Children’s Hospital-Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/maple-syrup-urine-disease

  A newborn with MSUD will need a special formula. It has low levels of the three amino acids the body can’t break down. […] As children with MSUD grow, they must be on a special low-protein diet. Parents work directly with a nutritionist or specialist in child development. […] Children with MSUD may also need: Speech-language therapy to help with language delays. Physical or occupational therapy to help with mobility and everyday activities. Counseling to help manage conditions like anxiety and depression. […] UPMC Children’s also offers liver transplants for children with the most severe MSUD. […] If your child has maple syrup urine disease, we want you to know that you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help. […] You’ll have a care plan tailored to your child’s needs by the end of your visit. You’ll also have a follow-up visit in three months. […] You’ll meet our clinical nurse practitioner who can help you with any concerns between now and your next appointment.

• #94 Maple Syrup Urine Disease | UPMC Children’s Hospital-Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/maple-syrup-urine-disease

  A newborn with MSUD will need a special formula. It has low levels of the three amino acids the body can’t break down. […] As children with MSUD grow, they must be on a special low-protein diet. Parents work directly with a nutritionist or specialist in child development. […] Children with MSUD may also need: Speech-language therapy to help with language delays. Physical or occupational therapy to help with mobility and everyday activities. Counseling to help manage conditions like anxiety and depression. […] UPMC Children’s also offers liver transplants for children with the most severe MSUD. […] If your child has maple syrup urine disease, we want you to know that you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help. […] You’ll have a care plan tailored to your child’s needs by the end of your visit. You’ll also have a follow-up visit in three months. […] You’ll meet our clinical nurse practitioner who can help you with any concerns between now and your next appointment.

• #95 Illness Plan for Maple Syrup Urine Disease (MSUD)

  https://www.massgeneral.org/children/metabolic-disorders/maple-syrup-urine-disease-acute-care-plan

  Maple syrup urine disease (MSUD) is genetic condition in which the body cannot break down certain amino acids in protein. It causes distinctive sweet-smelling urine. Learn a care plan if your child with MSUD gets sick. […] When a child with a metabolic condition gets sick, there are specific signs to look for that require further evaluation by a doctor, such as: […] Below are steps to provide acute care to patients with MSUD. […] There is a Genetics and Metabolism doctor available 24/7. You can reach them by calling 617-726-2000 (pager #26396). […] The doctor can talk with you if you are concerned about whether to bring your child to the emergency room. They can also help you figure out what to tell the doctors once you arrive to the emergency room.

• #96 Beyond Maple Syrup Urine Disease (MSUD): Lincoln’s Story | Connecticut Children’s

  https://www.connecticutchildrens.org/growing-healthy/beyond-maple-syrup-urine-disease-msud-lincolns-story

  Connecticut Childrens Newborn Screening Network played a vital role in detecting a potential case of Maple Syrup Urine Disease (MSUD) during Lincolns initial screening. […] Treatment involves a lifelong, low-protein diet, nutrient supplementation tailored by a metabolic dietitian, and regular blood test monitoring. […] Kirsten and her familys journey after diagnosis began by meeting with genetic specialists and a metabolic dietitian at Connecticut Children’s, where they learned the importance of managing Lincolns strict diet. […] The dietitians regularly stay in touch to help manage Lincolns unique nutritional needs and dietary restrictions. […] „It’s so relieving that I can contact our doctors whenever we need,” she shared. […] Through it all, Connecticut Children’s100% dedicated to kidshas been there every step of the way, including helping to create an emergency plan in case Lincolns condition worsens.

• #97 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  If youre feeding a newborn with classic MSUD, youll need to use a formula rich in essential nutrients but lacking the three amino acids. […] Youll need to get to a hospital immediately if youre experiencing symptoms of a metabolic crisis. […] Since 2004, liver transplants have successfully treated people with classic MSUD. […] A liver transplant includes complications like any surgery, including bleeding, infection and blood clots. […] If your baby or child shows signs of MSUD, you should seek immediate medical care. […] Taking fast action can prevent complications and save your childs life. If youre living with an MSUD diagnosis, take care to follow your nutritionists guidance on a meal plan thats healthy and safe.

• #98 Maple syrup urine disease

  https://www.nhs.uk/conditions/maple-syrup-urine-disease/

  If your child becomes ill, they might have an episode of a metabolic crisis. This can lead to serious illness and long-term brain damage, and can be life threatening. […] Your dietitian will provide detailed instructions for a low-protein diet and dietary supplements. This may include replacing milk and foods containing protein with special high-sugar drinks and taking amino acid supplements. […] Take your child to hospital if the symptoms of a metabolic crisis develop, if they cannot keep down their emergency diet and supplements, or they have repeated diarrhoea. […] A liver transplant is sometimes an option to treat MSUD. If a person with MSUD receives a donated liver, they’ll no longer be at risk of a metabolic crisis and can have a normal diet.

• #99 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Transplanting an orthotopic liver: About 10% of BCKAD activity occurs in the liver, making it a key player in metabolizing branched-chain amino acids. Remarkably, restoring just 9% to 13% of normal BCKDH enzyme activity can effectively regulate this process. For patients with classic (severe) MSUD who cannot manage the condition through diet alone, liver transplantation is a highly recommended option. […] Management during pregnancy: Thanks to advancements in infant screening and preventive care, more individuals with MSUD are now surviving to childbearing age. Women with classic MSUD can successfully give birth to healthy babies. […] During their pregnancies, they continued taking the immunosuppressant sirolimus and did not follow any specific dietary restrictions. Despite this, both delivered healthy babies, highlighting the potential for positive outcomes in MSUD-affected pregnancies after liver transplantation.

• #100 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Our aim was to provide a comprehensive plan for assessing children and adults with MSUD and offering transplantation to appropriate patients in the safest way possible. […] Since the inception of the MSUD transplant protocol here last May, we have transplanted an additional 10 children with classic MSUD. […] All the children have normal liver function and are currently enjoying an unrestricted diet. […] Immunosuppression, as we noted earlier, remains one of the long-term concerns that post-transplant patients encounter. […] Currently, approximately 40 percent of patients may encounter an easily treated acute rejection episode after liver transplant. […] Significant neurological recovery has been noted in the long-term patient who underwent transplant and subtle but clear improvements have been reported in several of the recently transplanted patients.

• #101 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Most importantly, the uncertain risk of a devastating neurologic complication can be prevented with a successful liver transplantation. […] We hope that with the addition of liver transplantation as a therapeutic option, the quality of life and outcome for children with Maple Syrup Urine Disease will be greatly improved.

• #102 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Our aim was to provide a comprehensive plan for assessing children and adults with MSUD and offering transplantation to appropriate patients in the safest way possible. […] Since the inception of the MSUD transplant protocol here last May, we have transplanted an additional 10 children with classic MSUD. […] All the children have normal liver function and are currently enjoying an unrestricted diet. […] Immunosuppression, as we noted earlier, remains one of the long-term concerns that post-transplant patients encounter. […] Currently, approximately 40 percent of patients may encounter an easily treated acute rejection episode after liver transplant. […] Significant neurological recovery has been noted in the long-term patient who underwent transplant and subtle but clear improvements have been reported in several of the recently transplanted patients.

• #103 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Most importantly, the uncertain risk of a devastating neurologic complication can be prevented with a successful liver transplantation. […] We hope that with the addition of liver transplantation as a therapeutic option, the quality of life and outcome for children with Maple Syrup Urine Disease will be greatly improved.

• #104 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Our aim was to provide a comprehensive plan for assessing children and adults with MSUD and offering transplantation to appropriate patients in the safest way possible. […] Since the inception of the MSUD transplant protocol here last May, we have transplanted an additional 10 children with classic MSUD. […] All the children have normal liver function and are currently enjoying an unrestricted diet. […] Immunosuppression, as we noted earlier, remains one of the long-term concerns that post-transplant patients encounter. […] Currently, approximately 40 percent of patients may encounter an easily treated acute rejection episode after liver transplant. […] Significant neurological recovery has been noted in the long-term patient who underwent transplant and subtle but clear improvements have been reported in several of the recently transplanted patients.

• #105 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Most importantly, the uncertain risk of a devastating neurologic complication can be prevented with a successful liver transplantation. […] We hope that with the addition of liver transplantation as a therapeutic option, the quality of life and outcome for children with Maple Syrup Urine Disease will be greatly improved.

• #106 Maple Syrup Urine Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21168-maple-syrup-urine-disease

  If youre feeding a newborn with classic MSUD, youll need to use a formula rich in essential nutrients but lacking the three amino acids. […] Youll need to get to a hospital immediately if youre experiencing symptoms of a metabolic crisis. […] Since 2004, liver transplants have successfully treated people with classic MSUD. […] A liver transplant includes complications like any surgery, including bleeding, infection and blood clots. […] If your baby or child shows signs of MSUD, you should seek immediate medical care. […] Taking fast action can prevent complications and save your childs life. If youre living with an MSUD diagnosis, take care to follow your nutritionists guidance on a meal plan thats healthy and safe.

• #107 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Our aim was to provide a comprehensive plan for assessing children and adults with MSUD and offering transplantation to appropriate patients in the safest way possible. […] Since the inception of the MSUD transplant protocol here last May, we have transplanted an additional 10 children with classic MSUD. […] All the children have normal liver function and are currently enjoying an unrestricted diet. […] Immunosuppression, as we noted earlier, remains one of the long-term concerns that post-transplant patients encounter. […] Currently, approximately 40 percent of patients may encounter an easily treated acute rejection episode after liver transplant. […] Significant neurological recovery has been noted in the long-term patient who underwent transplant and subtle but clear improvements have been reported in several of the recently transplanted patients.

• #108 Amberly’s journey with Maple Syrup Urine Disease: From diagnosis to liver transplant

  https://www.manningchildrens.org/news-blog/2024/november/amberlys-journey-with-maple-syrup-urine-disease-/

  As Amberly continued to manage her condition with a strict low-protein diet, her hepatology team began to discuss long-term treatment options including a liver transplant. […] While maple syrup urine disease isn’t specifically an isolated liver condition, it is a genetic disorder that affects amino acid metabolism throughout the body, explained Dr. Arias. The liver plays a crucial role in this process, and a liver transplant is the only definitive cure. […] Amberly also required stents in her bile ducts after the transplant to help with proper drainage which was performed by Russell Zwiener, MD, a pediatric advanced endoscopist at Childrens Hospital. […] Today, Amberly is thriving post-transplant. She follows a strict regimen of anti-rejection medications and has bloodwork done every two weeks near their home in Baton Rouge.

• #109 Amberly’s journey with Maple Syrup Urine Disease: From diagnosis to liver transplant

  https://www.manningchildrens.org/news-blog/2024/november/amberlys-journey-with-maple-syrup-urine-disease-/

  As Amberly continued to manage her condition with a strict low-protein diet, her hepatology team began to discuss long-term treatment options including a liver transplant. […] While maple syrup urine disease isn’t specifically an isolated liver condition, it is a genetic disorder that affects amino acid metabolism throughout the body, explained Dr. Arias. The liver plays a crucial role in this process, and a liver transplant is the only definitive cure. […] Amberly also required stents in her bile ducts after the transplant to help with proper drainage which was performed by Russell Zwiener, MD, a pediatric advanced endoscopist at Childrens Hospital. […] Today, Amberly is thriving post-transplant. She follows a strict regimen of anti-rejection medications and has bloodwork done every two weeks near their home in Baton Rouge.

• #110 Amberly’s journey with Maple Syrup Urine Disease: From diagnosis to liver transplant

  https://www.manningchildrens.org/news-blog/2024/november/amberlys-journey-with-maple-syrup-urine-disease-/

  As Amberly continued to manage her condition with a strict low-protein diet, her hepatology team began to discuss long-term treatment options including a liver transplant. […] While maple syrup urine disease isn’t specifically an isolated liver condition, it is a genetic disorder that affects amino acid metabolism throughout the body, explained Dr. Arias. The liver plays a crucial role in this process, and a liver transplant is the only definitive cure. […] Amberly also required stents in her bile ducts after the transplant to help with proper drainage which was performed by Russell Zwiener, MD, a pediatric advanced endoscopist at Childrens Hospital. […] Today, Amberly is thriving post-transplant. She follows a strict regimen of anti-rejection medications and has bloodwork done every two weeks near their home in Baton Rouge.

• #111 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Our aim was to provide a comprehensive plan for assessing children and adults with MSUD and offering transplantation to appropriate patients in the safest way possible. […] Since the inception of the MSUD transplant protocol here last May, we have transplanted an additional 10 children with classic MSUD. […] All the children have normal liver function and are currently enjoying an unrestricted diet. […] Immunosuppression, as we noted earlier, remains one of the long-term concerns that post-transplant patients encounter. […] Currently, approximately 40 percent of patients may encounter an easily treated acute rejection episode after liver transplant. […] Significant neurological recovery has been noted in the long-term patient who underwent transplant and subtle but clear improvements have been reported in several of the recently transplanted patients.

• #112 Amberly’s journey with Maple Syrup Urine Disease: From diagnosis to liver transplant

  https://www.manningchildrens.org/news-blog/2024/november/amberlys-journey-with-maple-syrup-urine-disease-/

  As Amberly continued to manage her condition with a strict low-protein diet, her hepatology team began to discuss long-term treatment options including a liver transplant. […] While maple syrup urine disease isn’t specifically an isolated liver condition, it is a genetic disorder that affects amino acid metabolism throughout the body, explained Dr. Arias. The liver plays a crucial role in this process, and a liver transplant is the only definitive cure. […] Amberly also required stents in her bile ducts after the transplant to help with proper drainage which was performed by Russell Zwiener, MD, a pediatric advanced endoscopist at Childrens Hospital. […] Today, Amberly is thriving post-transplant. She follows a strict regimen of anti-rejection medications and has bloodwork done every two weeks near their home in Baton Rouge.

• #113 UW Health – Jamie was born with maple syrup urine disease,…FacebookShared with Public

  https://www.facebook.com/uwhealth/posts/jamie-was-born-with-maple-syrup-urine-disease-or-msud-a-rare-inherited-metabolic/1139736654496934/

  Jamie was born with maple syrup urine disease, or MSUD, a rare, inherited metabolic disorder. […] Baby Jamie was given a special formula that contained essential nutrients without the specific amino acids that would cause toxins to build up in her blood. Jamie learned to manage her condition into adulthood by following a strict low-protein diet without meat, eggs or dairy products, taking medications to help manage her disorder and regularly visiting her doctor to monitor her liver. […] Both sisters needed to take it slow with recovery; their bodies were re-growing nearly an entire organ. The liver typically grows back to its full size within six weeks of the operation. They both credit the team at UW Health for supporting them through the complicated, stressful yet successful transplant process. […] Now nearly seven months following their life-changing surgeries, both women are embracing new routines. Jamie is adjusting to a new heart-healthy diet that includes the occasional brat and cheeseburger. She’s also enjoying more physical activity with fewer limits than before her surgery.

• #114 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Transplanting an orthotopic liver: About 10% of BCKAD activity occurs in the liver, making it a key player in metabolizing branched-chain amino acids. Remarkably, restoring just 9% to 13% of normal BCKDH enzyme activity can effectively regulate this process. For patients with classic (severe) MSUD who cannot manage the condition through diet alone, liver transplantation is a highly recommended option. […] Management during pregnancy: Thanks to advancements in infant screening and preventive care, more individuals with MSUD are now surviving to childbearing age. Women with classic MSUD can successfully give birth to healthy babies. […] During their pregnancies, they continued taking the immunosuppressant sirolimus and did not follow any specific dietary restrictions. Despite this, both delivered healthy babies, highlighting the potential for positive outcomes in MSUD-affected pregnancies after liver transplantation.

• #115 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Elevated maternal plasma concentrations of phenylalanine and leucine are likely teratogenic, posing risks to the developing fetus. For women with MSUD planning a pregnancy, strict metabolic management is essential both before and during gestation. By carefully maintaining the mother’s plasma levels of branched-chain amino acids (BCAAs) within the range of 100 to 300 mol/L, it is possible to deliver a healthy baby. […] Mothers with MSUD face risks during the postpartum phase due to potential metabolic decompensation. Factors such as internal blood sequestration, uterine involution, and the catabolic stress of childbirth can trigger complications. To minimize risks, it is highly recommended that delivery take place in a metabolic referral centre with appropriate monitoring and care.

• #116 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Elevated maternal plasma concentrations of phenylalanine and leucine are likely teratogenic, posing risks to the developing fetus. For women with MSUD planning a pregnancy, strict metabolic management is essential both before and during gestation. By carefully maintaining the mother’s plasma levels of branched-chain amino acids (BCAAs) within the range of 100 to 300 mol/L, it is possible to deliver a healthy baby. […] Mothers with MSUD face risks during the postpartum phase due to potential metabolic decompensation. Factors such as internal blood sequestration, uterine involution, and the catabolic stress of childbirth can trigger complications. To minimize risks, it is highly recommended that delivery take place in a metabolic referral centre with appropriate monitoring and care.

• #117 Maple syrup urine disease type Ib | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ib/

  MSUD type Ib is primarily controlled by diet; patients control it primarily by eating only foods low in protein. This often means severe restrictions on meat, fish, eggs, dairy foods, whole grain flour, beans, and nuts. […] Management is also key to proper treatment. Amino-acid levels in the blood should be monitored regularly by a physician. Blood-test findings can help to calibrate the diet and are particularly important during pregnancy for a mother with MSUD. […] Illnesses should always prompt a consultation with a physician, as these are vulnerable periods for an individual with MSUD type Ib. He or she may need a special “sick-day diet” to avoid hospital stays. […] If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, individuals with MSUD type Ib can live healthy lives into adulthood and show normal growth and mental development. It is particularly critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability.

• #118 Maple syrup urine disease type Ib | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ib/

  MSUD type Ib is primarily controlled by diet; patients control it primarily by eating only foods low in protein. This often means severe restrictions on meat, fish, eggs, dairy foods, whole grain flour, beans, and nuts. […] Management is also key to proper treatment. Amino-acid levels in the blood should be monitored regularly by a physician. Blood-test findings can help to calibrate the diet and are particularly important during pregnancy for a mother with MSUD. […] Illnesses should always prompt a consultation with a physician, as these are vulnerable periods for an individual with MSUD type Ib. He or she may need a special “sick-day diet” to avoid hospital stays. […] If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, individuals with MSUD type Ib can live healthy lives into adulthood and show normal growth and mental development. It is particularly critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability.

• #119 Maple syrup urine disease type Ib | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/maple-syrup-urine-disease-type-ib/

  MSUD type Ib is primarily controlled by diet; patients control it primarily by eating only foods low in protein. This often means severe restrictions on meat, fish, eggs, dairy foods, whole grain flour, beans, and nuts. […] Management is also key to proper treatment. Amino-acid levels in the blood should be monitored regularly by a physician. Blood-test findings can help to calibrate the diet and are particularly important during pregnancy for a mother with MSUD. […] Illnesses should always prompt a consultation with a physician, as these are vulnerable periods for an individual with MSUD type Ib. He or she may need a special “sick-day diet” to avoid hospital stays. […] If untreated, MSUD can be fatal. With early, careful, and lifelong treatment and a low-protein diet, individuals with MSUD type Ib can live healthy lives into adulthood and show normal growth and mental development. It is particularly critical to recognize the disease as soon as symptoms appear in order to avoid brain damage and mental disability.

• #120 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Elevated maternal plasma concentrations of phenylalanine and leucine are likely teratogenic, posing risks to the developing fetus. For women with MSUD planning a pregnancy, strict metabolic management is essential both before and during gestation. By carefully maintaining the mother’s plasma levels of branched-chain amino acids (BCAAs) within the range of 100 to 300 mol/L, it is possible to deliver a healthy baby. […] Mothers with MSUD face risks during the postpartum phase due to potential metabolic decompensation. Factors such as internal blood sequestration, uterine involution, and the catabolic stress of childbirth can trigger complications. To minimize risks, it is highly recommended that delivery take place in a metabolic referral centre with appropriate monitoring and care.

• #121 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Elevated maternal plasma concentrations of phenylalanine and leucine are likely teratogenic, posing risks to the developing fetus. For women with MSUD planning a pregnancy, strict metabolic management is essential both before and during gestation. By carefully maintaining the mother’s plasma levels of branched-chain amino acids (BCAAs) within the range of 100 to 300 mol/L, it is possible to deliver a healthy baby. […] Mothers with MSUD face risks during the postpartum phase due to potential metabolic decompensation. Factors such as internal blood sequestration, uterine involution, and the catabolic stress of childbirth can trigger complications. To minimize risks, it is highly recommended that delivery take place in a metabolic referral centre with appropriate monitoring and care.

• #122 Maple Syrup Urine Disease In Adulthood: Challenges And Management – Klarity Health Library

  https://my.klarity.health/maple-syrup-urine-disease-in-adulthood-challenges-and-management/

  Transplanting an orthotopic liver: About 10% of BCKAD activity occurs in the liver, making it a key player in metabolizing branched-chain amino acids. Remarkably, restoring just 9% to 13% of normal BCKDH enzyme activity can effectively regulate this process. For patients with classic (severe) MSUD who cannot manage the condition through diet alone, liver transplantation is a highly recommended option. […] Management during pregnancy: Thanks to advancements in infant screening and preventive care, more individuals with MSUD are now surviving to childbearing age. Women with classic MSUD can successfully give birth to healthy babies. […] During their pregnancies, they continued taking the immunosuppressant sirolimus and did not follow any specific dietary restrictions. Despite this, both delivered healthy babies, highlighting the potential for positive outcomes in MSUD-affected pregnancies after liver transplantation.

• #123 Maple syrup disease: a standard of nursing care – PubMed

  https://pubmed.ncbi.nlm.nih.gov/12964664/

  Maple syrup disease (MSD) is an inherited metabolic disease that has the capacity to kill or cause severe neurological damage. A comprehensive method of treating these patients has brought notably improved outcomes. Using this approach with children, they can now achieve normal growth and development. They no longer need to undergo dialysis to decrease toxic levels of leucine. Favorable outcomes can be obtained by addressing the treatment variables of caloric intake, essential amino acid intake, adequate isoleucine, valine, glutamine, and alanine supplementation under careful medical supervision. The care provider’s knowledge of the pathophysiology of MSD and thoughtful care addressing neurological status, cerebral edema, fluid and electrolyte management, nutrition, education, and psychosocial issues may enable the ill child to make a full recovery without serious sequelae.

• #124 Maple syrup urine disease | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/maple-syrup-urine-disease

  It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: […] Diet low in protein […] Special formulas and low protein foods […] Thiamine supplements in some cases. […] Children who receive early and ongoing treatment for maple syrup urine disease can have healthy growth and development. Some children may still have some symptoms and signs even with early diagnosis and treatment.

• #125 Orphanet: Classic maple syrup urine disease

  https://www.orpha.net/en/disease/detail/268145

  Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. […] Classic MSUD in neonates is a medical emergency. Acute management requires aggressive enhancement of protein anabolism using glucose plus insulin, intravenous lipids, plasma amino acid monitoring, and isoleucine and valine supplements. Hemodialysis is often required. Stabilized infants need high calorie BCAA-free formulas, dietary leucine restriction and close outpatient monitoring at a metabolic clinic. Patients require a strict life-long diet and special monitoring during pregnancy. Orthotopic liver transplantation is also an effective treatment. […] Prognosis is good for those who are diagnosed early, treated promptly and who follow a strict lifelong diet.

• #126 Maple Syrup Urine Disease (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/msud.html

  Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening. This lets doctors start treatment, usually with a special diet, right away to help prevent problems. […] The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, theyll follow the special diet for the rest of their lives. Some also need to take nutritional supplements. Following this diet will help prevent the problems linked to MSUD. […] Your doctor will do regular checks of the amino acid levels in your child’s blood. Working with the health care team, including a dietitian who specializes in metabolic disorders like MSUD, can help keep these levels in an acceptable range.

• #127 Maple Syrup Urine Disease – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/msud.html

  Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with. Its caused by a defect in the enzymes that break down some amino acids. […] Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening. This lets doctors start treatment, usually with a special diet, right away to help prevent problems. […] The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. Babies with MSUD must be on a special formula as soon as possible. Then, theyll follow the special diet for the rest of their lives. Some also need to take nutritional supplements. Following this diet will help prevent the problems linked to MSUD. […] Your doctor will do regular checks of the amino acid levels in your child’s blood. Working with the health care team, including a dietitian who specializes in metabolic disorders like MSUD, can help keep these levels in an acceptable range. […] Maple syrup urine disease is treatable when found early. Doctors will closely watch kids who have it. […] Call your doctor right away if your child is sick, has a fever, is not eating well, or is very sleepy, or if you notice balance problems, trouble walking, or changes in behavior.

• #128 Newborn Screening Program – Maple Syrup Urine Disease

  http://www.idph.state.il.us/healthwellness/fs/msud.htm

  Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multi-disciplinary approach including the following specialties is recommended: pediatrics, genetics and nutrition. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented. […] Genetic counseling services are recommended. A list of genetic counselors and geneticists whose services are available through the Illinois Department of Public Health should be given to the parents if they have not already seen a geneticist. […] Provide a list of available support services in the community, such as the local health department, Early Intervention service providers and the University of Illinois at Chicago Division of Specialized Care for Children (DSCC).

• #129 CE Activity | Maple Syrup Urine Disease | NPs

  https://www.statpearls.com/nursepractitioner/ce/activity/95935

  Maple Syrup Urine Disease (MSUD) is a rare genetic disorder impacting branched-chain amino acid metabolism. […] Early recognition and treatment are crucial to reducing the morbidity and mortality of this disease. […] Designed for healthcare professionals, this course covers MSUD’s pathophysiology, clinical manifestations, diagnosis, and management strategies. Healthcare professionals will gain insights into early recognition, dietary therapy, acute metabolic decompensation management, and long-term care, enhancing their ability to provide optimal care for patients with MSUD. […] At the conclusion of this activity, the learner will be better able to: […] Implement a well-structured management plan for patients with maple syrup urine disease. […] Communicate with interprofessional healthcare team members to care for patients with maple syrup urine disease.

• #130 Maple syrup urine disease | Handouts | MedLink Neurology

  https://www.medlink.com/handouts/maple-syrup-urine-disease

  With strict dietary compliance and good medical care, children with MSUD can, and do, lead relatively normal lives. […] Careful control of the diet to insure the correct balance of the amino acid levels is the best strategy for the optimal function of persons with MSUD. […] It is very important that children with MSUD are not given aspirin or products containing aspirin.

• #131 Maple syrup urine disease | Handouts | MedLink Neurology

  https://www.medlink.com/handouts/maple-syrup-urine-disease

  With strict dietary compliance and good medical care, children with MSUD can, and do, lead relatively normal lives. […] Careful control of the diet to insure the correct balance of the amino acid levels is the best strategy for the optimal function of persons with MSUD. […] It is very important that children with MSUD are not given aspirin or products containing aspirin.

• #132 Pediatric Maple Syrup Urine Disease | Children’s Pittsburgh

  https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/maple-syrup-urine-disease

  Most importantly, the uncertain risk of a devastating neurologic complication can be prevented with a successful liver transplantation. […] We hope that with the addition of liver transplantation as a therapeutic option, the quality of life and outcome for children with Maple Syrup Urine Disease will be greatly improved.

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