Materiały źródłowe

• #1 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). […] 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.

• #1 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Effective treatment of MSUD requires addressing the patient’s nutritional needs and optimally managing acute metabolic decompensations. A pediatric nutritionist and metabolic disease specialist should be involved in managing MSUD patients. […] Initiating nutritional therapy requires clinical confirmation or a positive newborn screening result. The mainstay of treatment remains the dietary restriction of branched-chain amino acids. These dietary modifications need to be maintained throughout life. Newborns who screen positive for MSUD should immediately be started on a special MSUD dietary formula with no BCAA without waiting for confirmatory testing. There is evidence that a high rate glucose infusion at 11 mg/kg and 20% intravenous lipids at a rate of 2 g/kg daily can be helpful in addition to the dietary therapy in limiting brain damage, even in newborn MSUD patients who are initially asymptomatic.

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

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

  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. […] If youre feeding a newborn with classic MSUD, youll need to use a formula rich in essential nutrients but lacking the three amino acids. […] High doses of vitamin B1 (thiamine) and a strict diet can manage thiamine-responsive MSUD. […] Youll need to get to a hospital immediately if youre experiencing symptoms of a metabolic crisis. In the hospital, your care team may: Give glucose (10% dextrose) and insulin through a vein (using an IV) to adjust the level of amino acids in your body.

• #1 Navigating MSUD: Special Medical Formulas for Dietary Management

  https://invimeds.com/updates/msud-with-special-medical-formulas/

  Special medical formulas are available for individuals with MSUD to ensure proper nutrition while avoiding excessive intake of BCAAs. These formulas are carefully formulated to meet nutritional needs while minimizing the risk of metabolic complications. […] In managing MSUD in infants, the diet regulates breast milk or infant formula intake to restrict leucine, often limited to as little as 5oz or 1.5g of protein daily. However, this may not meet the infants total nutritional needs. To supplement, a BCAA-free infant protein substitute is used. […] These formulas are fortified with prebiotic oligosaccharides, promoting immune system strength and digestive well-being in infants. […] The formulas are amino acid-modified, enriched with iron, and designed for infants and toddlers with MSUD. They are lactose-free, non-GMO, and gluten-free, providing approximately 40% energy from fat and including DHA/ARA for brain and eye development.

• #1 Maple syrup urine disease – UF Health

  https://ufhealth.org/conditions-and-treatments/maple-syrup-urine-disease

  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.

• #1 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Following diagnosis, rapid removal of excess leucine from the body reduces the impact of the disease on development. Some methods of toxin removal include Exchange transfusion, hemodialysis, or hemofiltration. Exchange transfusion is an option to consider because it decreases high BCAA levels without disrupting the plasma repeatedly, however after exchange the BCAA levels will increase with the tissue storage releasing BCAAs. Hemodialysis is a safe and effective way to reduce elevated BCAA levels while correcting electrolyte and acid-base imbalances in an infant. Hemodialysis can be started as soon as a diagnosis is made when it is combined with dietary feeds that maintain recommended calorie and amino acid intake. […] A diet with carefully controlled levels of the amino acids leucine, isoleucine, and valine must be maintained at all times to reduce toxic metabolites to prevent neurological damage. Since these three amino acids occur in all-natural protein, and most natural foods contain some protein, any food intake must be closely monitored, and day-to-day protein intake calculated on a cumulative basis, to ensure individual tolerance levels are not exceeded at any time. As the MSUD diet is so protein-restricted, and adequate protein is a requirement for all humans, a tailored metabolic formula containing all the other essential amino acids, as well as any vitamins, minerals, omega-3 fatty acids and trace elements (which may be lacking due to the limited range of permissible foods), are an essential aspect of MSUD management. These complement the MSUD patient’s natural food intake to meet normal nutritional requirements without causing harm. If adequate calories cannot be obtained from natural food without exceeding protein tolerance, specialized low protein products such as starch-based baking mixtures, imitation rice and pasta may be prescribed, often alongside a protein-free carbohydrate powder added to food and/or drink, and increased at times of metabolic stress. MSUD patients with thiamine-responsive MSUD can have a higher protein intake diet with the administration of high doses of thiamine, a cofactor of the enzyme that causes the condition. The typical dosage amount of thiamine-responsive MSUD depends on the enzyme activity present and can range from 10 mg – 100 mg daily.

• #1 Maple syrup urine disease | Lima Memorial Health System

  https://www.limamemorial.org/health-library/HIE%20Multimedia-TextOnly/1/000373

  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.

• #1 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  The goals of nutritional therapy are as follows: Promote anabolism, Prevent catabolism, Promote average growth and weight gain, Preserve intellectual function, Restriction of branched-chain amino acids, especially leucine, while supplementing valine and isoleucine, Maintain plasma BCAA levels within the required treatment ranges, Evaluate thiamine responsiveness. […] Metabolic decompensations, typically at plasma leucine levels 380 mmol/L, usually occur due to dietary noncompliance or infections. Dietary noncompliance raises the BCAA levels but rarely progresses to decompensation and encephalopathy without additional physical or metabolic stress. However, trauma and infections can trigger protein catabolism, leading to a metabolic crisis. […] Management strategies in more severe cases include: Treating the underlying stressor causing the metabolic crisis, Restricting protein intake for 24 to 72 hours, Providing ample caloric support, Providing adequate hydration to maintain metabolic homeostasis, Providing supplementation with cofactors, Eliminating toxic metabolites, Treating associated clinical sequelae, Correcting metabolic abnormalities, Using dialysis (peritoneal and hemodialysis) in the most severe or acute cases refractory to other treatment.

• #1 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. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Orthotopic liver transplantation performed at an experienced medical center has changed the outlook for patients with classic maple syrup urine disease, who are frequently challenged with episodes of metabolic decompensation. […] It appears that, while liver transplantation cannot reverse the neurological damage that has already occurred, it can prevent additional episodes of decompensation and preserve the remaining neurological function.

• #1 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. The preferred calorie source is BCAA-free MSUD formula administered enterally, either oral or via nasogastric tube. If BCAA-free MSUD formula is not available or not tolerated, intravenous fluids should be used. […] If neurological signs develop or worsen, suspect cerebral edema. Brain edema (with associated brain stem herniation) is the most frequent cause of death in MSUD. If cerebral edema is confirmed: Order and start hemodialysis ASAP. Infuse mannitol at 1-2 grams/kg over 30-40 minutes. […] Some patients with MSUD are responsive to thiamine supplementation (in the long-term, not during an acute metabolic episode). These patients are more likely to have intermediate rather than classic MSUD with persistent elevations of MSUD metabolites but no major metabolic crises. […] Dietary treatment should only be done by or with the guidance of a metabolic physician and nutritionist.

• #1

  https://turkjpediatr.org/article/view/659

  Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD). […] CRRT is a choice of treatment in metabolic crisis of MSUD. Herein, we report the successful treatment of acute metabolic decompensation of MSUD with CRRT in 4 neonates.

• #1 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

  Natural Protein intake should be stopped for 24 to 48 h. […] Protein as BCAA-free amino acids with a dose of 23.5 g/ kg /day (if the intravenous form is available) together with isoleucine and valine supplements (20 to 120 mg/kg/day titrate to plasma level remains between 400 and 800 mole/L) were recommended for leucine reduction. […] Dialysis should be considered in the case of leucine of more than 1100 mole/L and/or rapid onset of neurological symptoms. […] Sodium phenylbutyrate reduces BCAA and can be effective in patients with intermediate MSUD. […] Cofactor therapy in these patients is useful. […] Every patient who is highly suspicious of MSUD according to plasma amino acid levels should be treated immediately. […] Management of the patients should not be delayed while awaiting the molecular genetic result.

• #1 Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience

  https://www.degruyter.com/document/doi/10.1515/jpem-2020-0356/html?lang=en

  Accurate management of metabolic decompensation in maple syrup urine disease (MSUD) has a crucial role, as acute attacks can cause neurological sequels and can be life threatening. Here, we aimed to evaluate effect of sodium phenylbutyrate (NaPBA) in acute management of MSUD attacks. […] This study is the first original study that investigates the effect of NaPBA in management of acute attacks of MSUD patients from Turkey. We suggest that NaPBA treatment in MSUD attacks can ameliorate clinical and biochemical findings. This therapeutic option should be considered especially in smaller centers without the toxin removal chance and for patients who were not appropriate for extracorporeal toxin removal like hemodynamic instability.

• #1 Maple syrup urine disease | MedLink Neurology

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

  Liver transplantation has become an increasingly common therapeutic approach in patients with maple syrup urine disease. […] Even after transplantation, hyperleucinosis with or without encephalopathy has been reported in rare cases in the setting of intercurrent illness, and thus, precautions should be taken in the setting of illness even after liver transplantation. […] If recurrent ketoacidosis depletes free carnitine, supplementation may be indicated. […] Antioxidants such as vitamin E or C have been suggested to decrease the oxidative stress damage. […] Phenylbutyrate inhibits BCKDC kinase and increases the complex’s activity in vitro and in vivo, a clinical trial in patients with maple syrup urine disease is underway.

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

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

  Since 2004, liver transplants have successfully treated people with classic MSUD. A new liver can produce the enzymes needed to break down the three amino acids. […] But youll still carry the gene for MSUD, which means you can pass it on to your child. […] A liver transplant includes complications like any surgery, including bleeding, infection and blood clots. […] Still, many people with MSUD who get a liver transplant go on to lead normal lives without fearing problems related to MSUD.

• #1 Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation – PubMed

  https://pubmed.ncbi.nlm.nih.gov/37340513/

  Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain -ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, as well as their respective -keto acids. […] The recommended treatment consists of a high-calorie diet with restricted protein intake and specific formulas containing essential amino acids, except those accumulated in MSUD. This treatment will be maintained throughout life, being adjusted according to the patients’ nutritional needs and BCAA concentration. […] Because dietary treatment may not be sufficient to prevent neurological damage in MSUD patients, other therapeutic strategies have been studied, including liver transplantation. With transplantation, it is possible to obtain an increase of about 10% of the normal BCKD in the body, an amount sufficient to maintain amino acid homeostasis and reduce metabolic decompensation crises. However, the experience related to this practice is very limited when considering the shortage of liver for transplantation and the risks related to the surgical procedure and immunosuppression. Thus, the purpose of this review is to survey the benefits, risks, and challenges of liver transplantation in the treatment of MSUD.

• #1 Navigating MSUD: Special Medical Formulas for Dietary Management

  https://invimeds.com/updates/msud-with-special-medical-formulas/

  In severe cases of MSUD, liver transplantation can stabilize metabolism and prevent crises by providing the necessary enzyme activity to metabolize accumulated BCAAs. This intervention mitigates neurological complications and enables patients to maintain a regular diet, improving their quality of life. However, it does not reverse existing impairments. Liver transplantation is considered when dietary restrictions and medical therapy are inadequate for managing MSUD. […] Liver transplantation for MSUD shows high success rates: 98% patient and 96% graft survival in a study of 54 procedures, mainly using deceased donor livers. […] Post-care management following a transplant for MSUD (Maple Syrup Urine Disease), patients need thorough post-care management to ensure the procedures success and their continued well-being. This involves closely monitoring blood amino acid levels through regular tests to prevent metabolic imbalances.

• #1 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-/

  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. It provides a functioning copy of the enzyme needed to break down amino acids, correcting the metabolic imbalance caused by the deficiency. […] 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 Children’s 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. For follow-up visits, she sees Dr. Arias at the Gastroenterology, Hepatology, and Nutrition Clinic at Children’s Hospital.

• #1 Gene therapy developed for maple syrup urine disease shows promise, new UMass Chan study reports

  https://www.umassmed.edu/news/news-archives/2025/02/gene-therapy-developed-for-maple-syrup-urine-disease-shows-promise-new-umass-chan-study-reports/

  A study led by UMass Chan Medical School researchers demonstrated that a gene therapy to correct a mutation that causes maple syrup urine disease (MSUD) prevented newborn death, normalized growth, restored coordinated expression of the affected genes and stabilized biomarkers in a calf as well as in mice. […] Researchers in the current study designed a dual-function recombinant adeno-associated virus serotype 9 vector to deliver a gene replacement to the liver, muscle, heart and brain. They wrote that the one-time treatment holds promise as a therapeutic alternative to prescription diet and liver transplant for treatment of MSUD types 1A and 1B, the two most common forms of MSUD in humans. […] Wang said that researchers are exploring with the U.S. Food and Drug Administration the next steps to translate this gene therapy into clinical use as a Phase I/II study.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20240822/mRNA-therapy-shows-promise-for-maple-syrup-urine-disease.aspx

  Researchers from the University of Pennsylvania, Perelman School of Medicine, Gene Therapy Program, and Moderna, have shown that repeated administration of lipid nanoparticle-encapsulated mRNA therapy significantly extended survival and reduced serum leucine levels in a mouse model of maple syrup urine disease (MSUD). […] „Repeated intravenous delivery of lipid nanoparticle-encapsulated mRNAs encoding hBCKDHA, hBCKDHB, and hDBT increased survival and body weight, and decreased serum leucine levels in a hypomorphic MSUD mouse model that survives until weaning without clinical intervention,” stated the investigators. […] „Repeated administration of LNP-encapsulated mRNAs may represent a potential long-term universal treatment approach for MSUD.”

• #1 Maple syrup urine disease – Wikipedia

  https://en.wikipedia.org/wiki/Maple_syrup_urine_disease

  Control of metabolism is vital during pregnancy of women with MSUD. To prevent detrimental abnormalities in the development of the embryo or fetus, dietary adjustments should be made and plasma amino acid concentrations of the mother should be observed carefully and frequently. Amino acid deficiency can be detected through fetal growth, making it essential to monitor development closely. BCAA levels should be monitored strictly with the goal of maintaining normal levels in individuals with MSUD who are pregnant. Often times there was an increase in leucine levels about the target range through the whole course of the pregnancy. Pregnant individuals with MSUD can have healthy newborns which tells us that MSUD metabolites are unlikely to have teratogenic outcomes that lead to birth defects, developmental delays, or miscarriages.

• #1 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Inpatient management for MSUD is more intensive compared to outpatient management. In addition to dietary strategies, clinicians should effectively treat the underlying stressor (eg, fever, dehydration, infection, surgery, and inflammation). […] The liver is responsible for expressing 10% of BCKAD activity. Restoring 9% to 13% of the normal BCKDH enzyme activity will effectively control branched-chain amino acid metabolism. Therefore, liver transplantation is recommended for classic (severe) MSUD patients who cannot be managed through diet. […] It is indeed possible for women with MSUD to deliver a healthy child. The mother must be educated about the potential teratogenic risks of elevated maternal leucine concentration. In such patients, tight metabolic control before and throughout gestation is critical. […] In addition to advising patients never to exceed their daily allowed dietary branched-chain amino acids and follow their recommended monitoring guidelines as a preventative intervention, clinicians should manage various complications that may develop with MSUD.

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

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

  Liver transplantation may guarantee normal or near-normal neurological outcomes if performed early following diagnosis. […] The goal of dietary therapy is normalization of branched-chain amino acids (BCAAs), leucine in particular, by restricting intake of BCAAs without impairing growth and intellectual development. […] Dietary therapy must be lifelong. […] For patients with maple syrup urine disease, the intake of leucine is calculated on an individual basis following measurement of plasma BCAAs. […] 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.

• #1 30 Year Study Highlights Need for Therapies in Maple Syrup Urine Disease | Technology Networks

  https://www.technologynetworks.com/proteomics/news/30-year-study-highlights-need-for-therapies-in-maple-syrup-urine-disease-329796

  A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited metabolic disorders. […] Three decades of innovation and clinical care by the CSC team have increased survival from 63% to 95% while hospitalization rates have decreased from 7 to just 0.25 hospital days per patient per year. Specific advances in management include new prescription formulas for children and adults as well as elective liver transplantation, a collaboration with the Hillman Center for Pediatric Transplantation (UPMC Children’s Hospital of Pittsburgh) that has been 100% successful for 93 individuals transplanted since 2003. […] Treatment of MSUD requires close monitoring of blood amino acid levels. […] The authors conclude that despite advances in clinical care, MSUD remains a morbid and potentially fatal disorder, and there remains a critical unmet need for safer and more effective disease-modifying interventions, including gene replacement or editing therapies.

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

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

  Treatment for MSUD includes: A life-long protein-restricted diet to promote proper growth and development, and prevent amino acid buildup […] Lifelong monitoring of leucine, isoleucine, and valine amino acid levels in the blood […] Immediate medical intervention if needed to respond to metabolic crises. 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. Individuals with thiamine-responsive MSUD can be treated with thiamine (B1) in coordination with other therapies, but thiamine is not recommended to be used as the only treatment. In rare cases, liver transplantation has been used to treat individuals with classic MSUD. A healthy transplanted liver can supply enough enzymes to break down the three affected branched-chain amino acids, allowing individuals to live symptom-free and eat normal foods. The high costs of liver transplantation and the availability of liver donors limit the number of transplants available.

• #2 Maple Syrup Urine Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/24737

  Effective treatment of MSUD requires addressing the patient’s nutritional needs and optimally managing acute metabolic decompensations. A pediatric nutritionist and metabolic disease specialist should be involved in managing MSUD patients. […] Initiating nutritional therapy requires clinical confirmation or a positive newborn screening result. The mainstay of treatment remains the dietary restriction of branched-chain amino acids. These dietary modifications need to be maintained throughout life. Newborns who screen positive for MSUD should immediately be started on a special MSUD dietary formula with no BCAA without waiting for confirmatory testing. […] There is evidence that a high rate glucose infusion at 11 mg/kg and 20% intravenous lipids at a rate of 2 g/kg daily can be helpful in addition to the dietary therapy in limiting brain damage, even in newborn MSUD patients who are initially asymptomatic.

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

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

  Liver transplantation may guarantee normal or near-normal neurological outcomes if performed early following diagnosis. […] The goal of dietary therapy is normalization of branched-chain amino acids (BCAAs), leucine in particular, by restricting intake of BCAAs without impairing growth and intellectual development. […] Dietary therapy must be lifelong. […] For patients with maple syrup urine disease, the intake of leucine is calculated on an individual basis following measurement of plasma BCAAs. […] 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.

• #2 Maple Syrup Urine Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/24737

  The goals of nutritional therapy are as follows: Promote anabolism, Prevent catabolism, Promote average growth and weight gain, Preserve intellectual function, Restriction of branched-chain amino acids, especially leucine, while supplementing valine and isoleucine, Maintain plasma BCAA levels within the required treatment ranges, Evaluate thiamine responsiveness. […] The allowed amounts of dietary BCAA are titrated into the diet using biochemical lab values and growth measurements during respective life periods. Long-term treatment warrants accurate assessment of caloric needs and BCAA restriction with valine and isoleucine supplementation. […] Dietary therapy for MSUD is lifelong. […] Metabolic decompensations, typically at plasma leucine levels 380 mmol/L, usually occur due to dietary noncompliance or infections.

• #2 Maple Syrup Urine Disease (for Parents) – Humana – Ohio

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

  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. […] Doctors may recommend a liver transplant for some children with severe MSUD.

• #2 Maple syrup urine disease

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

  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. […] 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. […] Having a liver transplant is a major procedure with its own risks. You will have to take medicine to suppress the immune system (immunosuppressant medication) for the rest of your life to stop your body rejecting the new liver.

• #2 Maple syrup urine disease type II | Myriad Foresight® Carrier Screen

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

  MSUD is primarily controlled by diet, using foods low in protein. This often means severe restrictions on meat, fish, eggs, dairy foods, whole-grain flour, beans, and nuts. Additionally, individuals with MSUD are given prescription medical foods and a special liquid formula that supplies needed nutrients without extra proteins they cannot digest. These dietary restrictions should begin immediately upon diagnosis and must continue for the individual’s entire life. […] Careful management is the key to effective treatment. Protein levels should be closely monitored by a physician, and dietary adjustments should be made as needed. Blood-test findings can help to calibrate the diet and are particularly important during pregnancy for a mother with MSUD. Any swelling of the brain requires immediate medical attention. Individuals with MSUD are particularly vulnerable during times of illness and should promptly consult a physician if they do not feel well. He or she may need a special „sick-day diet” to avoid hospital stays. Individuals with mood, anxiety, or attention and hyperactivity disorders generally respond well to the standard medications for those conditions. […] Liver transplant is an effective treatment and can often allow individuals with MSUD to have a normal diet. However, transplants cannot reverse any developmental disability or mental illness associated with the condition.

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

  https://www.newenglandconsortium.org/msud

  Specific management guidelines are listed here, with details below: […] Eliminate leucine by stopping intake of all natural protein […] Provide hydration and high caloric supplementation […] Correct metabolic abnormalities […] Monitor/treat cerebral edema […] Other considerations during metabolic crises […] Treat precipitating factor(s) […] Cofactor supplementation. […] 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. This BCAA-free MSUD formula should be administered until the leucine levels approach targets. If the patient is unable to take a MSUD formula orally or by nasogastric tube, consider a specialized branched-chain amino acid-free parenteral solution available through specific pharmacies.

• #2 Acer Therapeutics and Relief Therapeutics Announce ACER-001 IND Submission for the Treatment of Maple Syrup Urine Disease – BioSpace

  https://www.biospace.com/acer-therapeutics-and-relief-therapeutics-announce-acer-001-ind-submission-for-the-treatment-of-maple-syrup-urine-disease

  Acer Therapeutics Inc. and RELIEF THERAPEUTICS Holding SA (SIX: RLF, OTCQB: RLFTF, RLFTY) (Relief), today announced the submission of an Investigational New Drug (IND) application to the U.S. Food and Drug Administration (FDA) to evaluate the efficacy and safety of ACER-001 (sodium phenylbutyrate) for the potential treatment of patients with Maple Syrup Urine Disease (MSUD). […] Currently, the only treatment option for patients with MSUD is a life-long, protein-restricted diet. […] We look forward to the initiation of this investigational trial and learning more about ACER-001s potential to reduce branched-chain amino acids, and specifically leucine levels, in MSUD patients. […] The proposed initial Phase 2a, open-label dose-ranging trial is designed to evaluate the effect of different doses of ACER-001 (sodium phenylbutyrate) on blood leucine and other branched-chain amino acid (BCAA) levels in MSUD patients.

• #2 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. […] In rare circumstances, hemodialysis or peritoneal dialysis is required to remove BCAAs and keto acids. […] Orthotopic liver transplantation performed at an experienced medical center has changed the outlook for patients with classic maple syrup urine disease, who are frequently challenged with episodes of metabolic decompensation. […] It appears that, while liver transplantation cannot reverse the neurological damage that has already occurred, it can prevent additional episodes of decompensation and preserve the remaining neurological function.

• #2 Navigating MSUD: Special Medical Formulas for Dietary Management

  https://invimeds.com/updates/msud-with-special-medical-formulas/

  In severe cases of MSUD, liver transplantation can stabilize metabolism and prevent crises by providing the necessary enzyme activity to metabolize accumulated BCAAs. This intervention mitigates neurological complications and enables patients to maintain a regular diet, improving their quality of life. However, it does not reverse existing impairments. Liver transplantation is considered when dietary restrictions and medical therapy are inadequate for managing MSUD. […] Liver transplantation for MSUD shows high success rates: 98% patient and 96% graft survival in a study of 54 procedures, mainly using deceased donor livers. […] Post-care management following a transplant for MSUD (Maple Syrup Urine Disease), patients need thorough post-care management to ensure the procedures success and their continued well-being. This involves closely monitoring blood amino acid levels through regular tests to prevent metabolic imbalances.

• #2 First in vivo success of a gene therapy for the maple syrup urine disease | Institut Imagine

  https://www.institutimagine.org/en/first-vivo-success-gene-therapy-maple-syrup-urine-disease-1366

  In a new study published in Nature Communications, teams coordinated by Prof. Manuel Schiff and Dr. Clment Pontoizeau, within the rare disease department and reference centre for hereditary metabolic diseases at the Hpital Necker-Enfants Malades AP-HP and the research laboratory for the genetics of mitochondrial diseases, directed by Agns Rtig, at the Institut Imagine (Inserm, APHP, Universit Paris Cit), with the collaboration of the rAAV plateform coordinated by Marcelo Simon-Sola, have successfully tested a gene therapy on mouse models of leukinosis, or maple syrup urine disease, a rare and severe genetic metabolic disease. This is a first key step towards the development of treatment in humans. […] In order to cure patients in the long term, teams from the rare disease department and reference centre for hereditary metabolic diseases at the Hpital Necker-Enfants Malades AP-HP and from the genetics of mitochondrial diseases research laboratory, directed by Agns Rtig, at the Institut Imagine, are working on the implementation of a gene therapy for maple syrup urine disease (MSUD). For the first time, they have successfully tested it in vivo in mice.

• #2 Gene therapy developed for maple syrup urine disease shows promise

  https://medicalxpress.com/news/2025-02-gene-therapy-maple-syrup-urine.html

  A study led by UMass Chan Medical School researchers has demonstrated that a gene therapy to correct a mutation that causes maple syrup urine disease (MSUD) prevented newborn death, normalized growth, restored coordinated expression of the affected genes and stabilized biomarkers in a calf as well as in mice. […] Researchers in the current study designed a dual-function recombinant adeno-associated virus serotype 9 vector to deliver a gene replacement to the liver, muscle, heart and brain. They wrote that the one-time treatment holds promise as a therapeutic alternative to prescription diet and liver transplant for the treatment of MSUD types 1A and 1B, the two most common forms of MSUD in humans. […] Wang said that researchers are exploring the next steps to translate this gene therapy into clinical use as a Phase I/II study with the U.S. Food and Drug Administration.

• #2 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  Inpatient management for MSUD is more intensive compared to outpatient management. In addition to dietary strategies, clinicians should effectively treat the underlying stressor (eg, fever, dehydration, infection, surgery, and inflammation). […] The liver is responsible for expressing 10% of BCKAD activity. Restoring 9% to 13% of the normal BCKDH enzyme activity will effectively control branched-chain amino acid metabolism. Therefore, liver transplantation is recommended for classic (severe) MSUD patients who cannot be managed through diet. […] It is indeed possible for women with MSUD to deliver a healthy child. The mother must be educated about the potential teratogenic risks of elevated maternal leucine concentration. In such patients, tight metabolic control before and throughout gestation is critical. […] In addition to advising patients never to exceed their daily allowed dietary branched-chain amino acids and follow their recommended monitoring guidelines as a preventative intervention, clinicians should manage various complications that may develop with MSUD.

• #2 Maple Syrup Urine Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/24737

  Management strategies in more severe cases include: Treating the underlying stressor causing the metabolic crisis, Restricting protein intake for 24 to 72 hours, Providing ample caloric support, Providing adequate hydration to maintain metabolic homeostasis, Providing supplementation with cofactors, Eliminating toxic metabolites, Treating associated clinical sequelae, Correcting metabolic abnormalities, Using dialysis (peritoneal and hemodialysis) in the most severe or acute cases refractory to other treatment. […] Inpatient management for MSUD is more intensive compared to outpatient management. […] The liver is responsible for expressing 10% of BCKAD activity. Restoring 9% to 13% of the normal BCKDH enzyme activity will effectively control branched-chain amino acid metabolism. Therefore, liver transplantation is recommended for classic (severe) MSUD patients who cannot be managed through diet.

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

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

  Since 2004, liver transplants have successfully treated people with classic MSUD. A new liver can produce the enzymes needed to break down the three amino acids. […] But youll still carry the gene for MSUD, which means you can pass it on to your child. […] A liver transplant includes complications like any surgery, including bleeding, infection and blood clots. […] Still, many people with MSUD who get a liver transplant go on to lead normal lives without fearing problems related to MSUD.

• #2

  https://grantome.com/grant/NIH/R01-DK092921-04

  The goal of this application is to translate a basic science discovery into new and better treatments for patients with MSUD based on the approach of modifying the phosphorylation status of the E1? subunit of Branched Chain Ketoacid Decarboxylase Complex (BCKDC). […] We are testing whether an FDA approved drug, sodium phenylbutyrate, can be used to treat MSUD and whether we can develop tests to predict who might respond to this treatment.

• #3 Navigating MSUD: Special Medical Formulas for Dietary Management

  https://invimeds.com/updates/msud-with-special-medical-formulas/

  Special medical formulas are available for individuals with MSUD to ensure proper nutrition while avoiding excessive intake of BCAAs. These formulas are carefully formulated to meet nutritional needs while minimizing the risk of metabolic complications. […] In managing MSUD in infants, the diet regulates breast milk or infant formula intake to restrict leucine, often limited to as little as 5oz or 1.5g of protein daily. However, this may not meet the infants total nutritional needs. To supplement, a BCAA-free infant protein substitute is used. […] These formulas are fortified with prebiotic oligosaccharides, promoting immune system strength and digestive well-being in infants. […] The formulas are amino acid-modified, enriched with iron, and designed for infants and toddlers with MSUD. They are lactose-free, non-GMO, and gluten-free, providing approximately 40% energy from fat and including DHA/ARA for brain and eye development.

• #3 Maple Syrup Urine Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557773/

  The goals of nutritional therapy are as follows: Promote anabolism, Prevent catabolism, Promote average growth and weight gain, Preserve intellectual function, Restriction of branched-chain amino acids, especially leucine, while supplementing valine and isoleucine, Maintain plasma BCAA levels within the required treatment ranges, Evaluate thiamine responsiveness. […] Metabolic decompensations, typically at plasma leucine levels 380 mmol/L, usually occur due to dietary noncompliance or infections. Dietary noncompliance raises the BCAA levels but rarely progresses to decompensation and encephalopathy without additional physical or metabolic stress. However, trauma and infections can trigger protein catabolism, leading to a metabolic crisis. […] Management strategies in more severe cases include: Treating the underlying stressor causing the metabolic crisis, Restricting protein intake for 24 to 72 hours, Providing ample caloric support, Providing adequate hydration to maintain metabolic homeostasis, Providing supplementation with cofactors, Eliminating toxic metabolites, Treating associated clinical sequelae, Correcting metabolic abnormalities, Using dialysis (peritoneal and hemodialysis) in the most severe or acute cases refractory to other treatment.

• #3 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). […] Liver transplantation in pediatric patients with classic MSUD has been a very successful treatment. […] Sodium phenylbutyrate (NaPBA), a nitrogen scavenging medication, is commonly used for the treatment of patients with urea cycle disorders (UCDs). It has been noted in these patients that NaPBA lowers BCAA amino acid levels.

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

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

  Liver transplantation may guarantee normal or near-normal neurological outcomes if performed early following diagnosis. […] The goal of dietary therapy is normalization of branched-chain amino acids (BCAAs), leucine in particular, by restricting intake of BCAAs without impairing growth and intellectual development. […] Dietary therapy must be lifelong. […] For patients with maple syrup urine disease, the intake of leucine is calculated on an individual basis following measurement of plasma BCAAs. […] 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.

• #3 Maple syrup urine disease

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

  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. […] 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. […] Having a liver transplant is a major procedure with its own risks. You will have to take medicine to suppress the immune system (immunosuppressant medication) for the rest of your life to stop your body rejecting the new liver.

• #3 Symptoms of Maple Syrup Urine Disease: Life Expectancy, Causes

  https://www.medicinenet.com/what_are_the_symptoms_of_maple_syrup_urine_disease/article.htm

  Medical foods: Are specially formulated to meet the nutritional requirements of individuals with MSUD. They are designed to be low in certain amino acids and high in others so the body can break them down easily. […] Liver transplantation: An option for individuals with severe forms of MSUD that do not respond to other treatments. The liver is the primary organ responsible for breaking down amino acids. A liver transplant can replace the faulty liver with a healthy one, effectively curing MSUD. […] Gene therapy: A relatively new and experimental treatment option for MSUD. It involves introducing healthy copies of the faulty gene responsible for MSUD into the body, producing a functional enzyme that can break down amino acids correctly. […] The treatment of MSUD requires a multidisciplinary approach involving a team of healthcare professionals, including a dietitian, genetic counselor, and specialized physicians. Treatment options may vary depending on the severity of the disease, and a personalized treatment plan is necessary for optimal management of the disease.

• #3 Maple Syrup Urine Disease (MSUD) – Metabolic

  https://metabolic.ie/patient-family-information/metabolic-conditions/maple-syrup-urine-disease-msud/

  Maple Syrup Urine Disease (MSUD) is a life-threatening rare genetic disorder present from birth. In MSUD, the body is unable to break down 3 amino acids called leucine, isoleucine and valine, which build up in the body and cause problems. […] At present, the treatment for MSUD is a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. The aim is to keep the blood levels of leucine, isoleucine and valine within a specific target range. […] Patients with MSUD are managed by the multidisciplinary team and we liaise closely with the Metabolic Laboratory to ensure close and frequent monitoring of these patients. We follow international best practise guidelines and we have also presented our experience of management of MSUD at various international conferences.

• #4 Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience

  https://www.degruyter.com/document/doi/10.1515/jpem-2020-0356/html?lang=en

  Accurate management of metabolic decompensation in maple syrup urine disease (MSUD) has a crucial role, as acute attacks can cause neurological sequels and can be life threatening. Here, we aimed to evaluate effect of sodium phenylbutyrate (NaPBA) in acute management of MSUD attacks. […] This study is the first original study that investigates the effect of NaPBA in management of acute attacks of MSUD patients from Turkey. We suggest that NaPBA treatment in MSUD attacks can ameliorate clinical and biochemical findings. This therapeutic option should be considered especially in smaller centers without the toxin removal chance and for patients who were not appropriate for extracorporeal toxin removal like hemodynamic instability.

• #4 Maple Syrup Urine Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/24737

  Management strategies in more severe cases include: Treating the underlying stressor causing the metabolic crisis, Restricting protein intake for 24 to 72 hours, Providing ample caloric support, Providing adequate hydration to maintain metabolic homeostasis, Providing supplementation with cofactors, Eliminating toxic metabolites, Treating associated clinical sequelae, Correcting metabolic abnormalities, Using dialysis (peritoneal and hemodialysis) in the most severe or acute cases refractory to other treatment. […] Inpatient management for MSUD is more intensive compared to outpatient management. […] The liver is responsible for expressing 10% of BCKAD activity. Restoring 9% to 13% of the normal BCKDH enzyme activity will effectively control branched-chain amino acid metabolism. Therefore, liver transplantation is recommended for classic (severe) MSUD patients who cannot be managed through diet.

• #4 Maple Syrup Urine Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/24737

  Posttransplantation, the residual activity of BCKAD can rise to mild MSUD. Transplantation essentially eliminates the need for severe dietary restrictions and helps avoid episodes of metabolic decompensation, although it does not reverse previous brain damage, cognitive dysfunction, or psychiatric illnesses.

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