Materiały źródłowe

• #1 MCAD deficiency – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/diagnosis-treatment/drc-20353747

  Newborn screening at birth allows MCAD deficiency to be diagnosed and treated early, before symptoms occur, preventing complications. […] Once identified, the disorder can be managed through diet and lifestyle. […] The main goal of treatment for MCAD deficiency is to prevent problems caused by your metabolism that can lead to low blood sugar. […] Infants require frequent feedings that include getting enough calories from complex carbohydrates. […] Children and adults need to get enough complex carbohydrates on a regular schedule of meals and snacks. […] Your health care team may recommend additional treatment options. […] Work with your health care team, including a registered dietitian, to develop a treatment plan tailored to your energy needs. […] Recommendations to prevent low blood sugar called hypoglycemia generally include: Avoid fasting longer than recommended by your health care team.

• #2 Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9836253/

  MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. […] The therapeutic goal of longterm MCADD management is to prevent acute incidents of metabolic decompensation through avoidance of fasting. In times of normal health and the absence of an intercurrent infection with fever or stressing conditions, fasting times should be kept to a minimum. […] Management of MCADD varies depending on the severity and stage of the disease. In acute illness, patients are at high risk of experiencing metabolic crisis, which should be considered a medical emergency. […] If the individual is unable to receive sufficient oral intake of glucose, IV administration of 2 ml/kg of 25% dextrose solution should be started immediately.

• #3 Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9836253/

  MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. […] The therapeutic goal of longterm MCADD management is to prevent acute incidents of metabolic decompensation through avoidance of fasting. In times of normal health and the absence of an intercurrent infection with fever or stressing conditions, fasting times should be kept to a minimum. […] Management of MCADD varies depending on the severity and stage of the disease. In acute illness, patients are at high risk of experiencing metabolic crisis, which should be considered a medical emergency. […] If the individual is unable to receive sufficient oral intake of glucose, IV administration of 2 ml/kg of 25% dextrose solution should be started immediately.

• #4 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  There is no cure for MCAD deficiency. However, routine dietary therapy can ameliorate and/or prevent symptoms of this condition. […] Avoidance of fasting remains the cornerstone of MCAD deficiency treatment. Although management of any given affected individual is nuanced and managed on a case-by-case basis, minor illnesses, where caloric needs are increased or provision of adequate calories is compromised, should be observed closely and promptly treated with a low threshold for hospital admission. An emergency management protocol should be in place and parents or caregivers should be given an emergency letter.

• #5 MCADD

  https://www.nhs.uk/conditions/mcadd/

  There’s no specific treatment for MCADD. A specialist care team will give you advice about how to look after your child and support them as they get older. […] Children and adults with MCADD can eat a normal diet, as long as they: […] frequently take special high-sugar drinks when they’re ill this includes common illnesses such as a high temperature, diarrhoea, or vomiting […] avoid long periods without eating during the newborn period and infancy even when well the length of time your child can go without eating is known as the maximum „safe fasting time” and it varies depending on age; you’ll be given advice about this. […] The high-sugar drinks used for treating MCADD are available on prescription from a GP. You’ll be advised by a specialist dietitian about when to use them and how much to use. If the drinks do not help or your child refuses them, they may need to be treated in hospital. […] You can find more detailed information about MCADD treatment in the British Inherited Metabolic Diseases Group (BIMDG) MCADD information sheet for parents and carers (PDF, 116kb).

• #6 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management: Medical Care, Consultations, Diet

  https://emedicine.medscape.com/%20https://emedicine.medscape.com/article/946755-treatment

  A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any fasting period longer than 4-5 hours. […] Carnitine administration has been advocated on the basis of recognition of the biochemical role of carnitine in permitting conjugation and excretion of toxic intermediates. However, the evidence for any therapeutic effect is sparse and mostly anecdotal. […] A recent study provides no evidence that supplemental carnitine administration is beneficial in moderate exercise states. […] Moreover, patients with MCAD deficiency can replenish their stores of carnitine to compensate for carnitine losses with exercise. […] Diet should be adjusted to supply requisite nutrition for normal growth and avoid fasting periods of more than 4-5 hours in infants younger than 6 months. Thereafter, fasting of more than 8 hours should be avoided in infants aged 6-12 months, and fasting of more than 10 hours should be avoided in patients aged 12-24 months. Subsequently, no affected individual should be permitted to fast longer than 12 hours. […] Because the fundamental biochemical defect is in fatty acid oxidation, the composition of the diet should be adjusted to provide greater caloric density in carbohydrates and proteins and minimize lipids.

• #7 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #8 MCAD Deficiency Diagnosis and Treatment

  https://informnetwork.org/mcad-deficiency/

  Day-to-day management of this disorder consists of avoiding excessive fasting, as it could lead to a coma. How long infants should only go without food will depend on their age, but it’s typically only a few hours. Overnight fasts of 8 hours are allowed after 6 months of age. Children over one year of age can usually safely go without food for 12 to 18 hours. […] Patients appear to tolerate normal diets, but it is reasonable to modestly reduce dietary fat to < 30% of daily calories because this fuel cannot be used efficiently in MCAD deficiency. Formulas containing medium-chain triglyceride oil should be avoided. MCAD patients tend to have low blood levels of carnitine, but the use of carnitine supplementation is controversial. Some fatty acid oxidation research suggests a supplement of 50 to 100 mg/day of oral carnitine, but its usefulness is not proven.

• #9 MCAD Deficiency Diagnosis and Treatment

  https://informnetwork.org/mcad-deficiency/

  Day-to-day management of this disorder consists of avoiding excessive fasting, as it could lead to a coma. How long infants should only go without food will depend on their age, but it’s typically only a few hours. Overnight fasts of 8 hours are allowed after 6 months of age. Children over one year of age can usually safely go without food for 12 to 18 hours. […] Patients appear to tolerate normal diets, but it is reasonable to modestly reduce dietary fat to < 30% of daily calories because this fuel cannot be used efficiently in MCAD deficiency. Formulas containing medium-chain triglyceride oil should be avoided. MCAD patients tend to have low blood levels of carnitine, but the use of carnitine supplementation is controversial. Some fatty acid oxidation research suggests a supplement of 50 to 100 mg/day of oral carnitine, but its usefulness is not proven.

• #10

  https://www.sgh.com.sg/patient-care/conditions-treatments/medium-chain-acyl-coa-dehydrogenase-deficiency

  The management of MCADD includes: […] Most people with MCADD, with appropriate care and management, go on to live long, healthy lives. […] As MCADD is a lifelong condition, there will be regular monitoring of growth and development, and assessment of diet and nutrition. […] Avoidance of fasting […] Use of emergency treatment protocol […] Use of emergency regimen (provided by dietitian) […] Carnitine supplementation in some cases (if carnitine level is low) […] Intravenous glucose drip in the hospital if the child vomits or refuses to eat […] Avoidance of concentrated sources of medium-chain triglycerides (MCT), like MCT oil and specialised products with high MCT oil content.

• #11 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management: Medical Care, Consultations, Diet

  https://emedicine.medscape.com/%20https://emedicine.medscape.com/article/946755-treatment

  A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any fasting period longer than 4-5 hours. […] Carnitine administration has been advocated on the basis of recognition of the biochemical role of carnitine in permitting conjugation and excretion of toxic intermediates. However, the evidence for any therapeutic effect is sparse and mostly anecdotal. […] A recent study provides no evidence that supplemental carnitine administration is beneficial in moderate exercise states. […] Moreover, patients with MCAD deficiency can replenish their stores of carnitine to compensate for carnitine losses with exercise. […] Diet should be adjusted to supply requisite nutrition for normal growth and avoid fasting periods of more than 4-5 hours in infants younger than 6 months. Thereafter, fasting of more than 8 hours should be avoided in infants aged 6-12 months, and fasting of more than 10 hours should be avoided in patients aged 12-24 months. Subsequently, no affected individual should be permitted to fast longer than 12 hours. […] Because the fundamental biochemical defect is in fatty acid oxidation, the composition of the diet should be adjusted to provide greater caloric density in carbohydrates and proteins and minimize lipids.

• #12 MCADD (medium chain acyl-CoA dehydrogenase deficiency) – newbornscreening.info

  https://www.newbornscreening.info/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency/

  Your babys primary doctor will work with a metabolic doctor to care for your child. Your doctor may also suggest that you meet with a dietician familiar with MCADD. […] Certain treatments may be advised for some children but not others. When necessary, treatment is usually needed throughout life. The following are treatments often recommended for children with MCADD: […] 1. Avoid going a long time without food Infants and young children with MCADD need to eat frequently to prevent hypoglycemia or a metabolic crisis. Your metabolic doctor will tell you how often your child needs to be fed. In general, it is often suggested that infants be fed every four to six hours. Some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Your metabolic doctor and dietician will give you an appropriate feeding plan for your infant. Your doctor will also give you a sick day plan, tailored to your childs needs, for you to follow during illnesses or other times when your child will not eat.

• #13 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #14

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  The frequency of feeding for an MCADD infant, who is well, should be no different than that for a non-MCADD infant. […] Regular infant formula or breast milk can be continued in MCADD infants. […] The dietary recommendations for MCADD do not include restriction of any food group or single nutrient, so there is no a priori need for nutrient supplementation. […] The use of a concentrated oral glucose source may be lifesaving while awaiting emergency care. […] IV glucose should be started as soon as labor begins and continued until the patient has adequate oral intake and can maintain normoglycemia.

• #15 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #16 MCAD Deficiency: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/mcad-overview-4175022

  Today, testing for MCAD deficiency is part of standard newborn screenings in the United States. […] The primary way to treat MCAD deficiency is to avoid prolonged fasting and ensure proper nutrition. Parents will be given strict instructions about feeding to prevent any long periods of fasting. […] In addition to having regular bottle feedings, some specialists recommend that infants be given a special formula with added simple carbohydrates (sugars, such as uncooked cornstarch) to help prevent drops in blood sugar. […] Children and adults with MCAD deficiency would also be advised to adhere to a specific diet that includes higher amounts of carbohydrates and lower amounts of fat than would typically be recommended for their age group. […] In addition to ensuring appropriate nutrition, strict adherence to a regular feeding schedule will need to begin from the time of diagnosis.

• #17 MCADD

  https://www.nhs.uk/conditions/mcadd/

  There’s no specific treatment for MCADD. A specialist care team will give you advice about how to look after your child and support them as they get older. […] Children and adults with MCADD can eat a normal diet, as long as they: […] frequently take special high-sugar drinks when they’re ill this includes common illnesses such as a high temperature, diarrhoea, or vomiting […] avoid long periods without eating during the newborn period and infancy even when well the length of time your child can go without eating is known as the maximum „safe fasting time” and it varies depending on age; you’ll be given advice about this. […] The high-sugar drinks used for treating MCADD are available on prescription from a GP. You’ll be advised by a specialist dietitian about when to use them and how much to use. If the drinks do not help or your child refuses them, they may need to be treated in hospital. […] You can find more detailed information about MCADD treatment in the British Inherited Metabolic Diseases Group (BIMDG) MCADD information sheet for parents and carers (PDF, 116kb).

• #18 Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9836253/

  MCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention. […] The therapeutic goal of longterm MCADD management is to prevent acute incidents of metabolic decompensation through avoidance of fasting. In times of normal health and the absence of an intercurrent infection with fever or stressing conditions, fasting times should be kept to a minimum. […] Management of MCADD varies depending on the severity and stage of the disease. In acute illness, patients are at high risk of experiencing metabolic crisis, which should be considered a medical emergency. […] If the individual is unable to receive sufficient oral intake of glucose, IV administration of 2 ml/kg of 25% dextrose solution should be started immediately.

• #19 MCADD

  https://www.nhs.uk/conditions/mcadd/

  There’s no specific treatment for MCADD. A specialist care team will give you advice about how to look after your child and support them as they get older. […] Children and adults with MCADD can eat a normal diet, as long as they: […] frequently take special high-sugar drinks when they’re ill this includes common illnesses such as a high temperature, diarrhoea, or vomiting […] avoid long periods without eating during the newborn period and infancy even when well the length of time your child can go without eating is known as the maximum „safe fasting time” and it varies depending on age; you’ll be given advice about this. […] The high-sugar drinks used for treating MCADD are available on prescription from a GP. You’ll be advised by a specialist dietitian about when to use them and how much to use. If the drinks do not help or your child refuses them, they may need to be treated in hospital. […] You can find more detailed information about MCADD treatment in the British Inherited Metabolic Diseases Group (BIMDG) MCADD information sheet for parents and carers (PDF, 116kb).

• #20

  https://gmdi.org/Resources/Nutrition-Guidelines/MCAD

  The frequency of feeding for an MCADD infant, who is well, should be no different than that for a non-MCADD infant. […] Regular infant formula or breast milk can be continued in MCADD infants. […] The dietary recommendations for MCADD do not include restriction of any food group or single nutrient, so there is no a priori need for nutrient supplementation. […] The use of a concentrated oral glucose source may be lifesaving while awaiting emergency care. […] IV glucose should be started as soon as labor begins and continued until the patient has adequate oral intake and can maintain normoglycemia.

• #21 Medium-Chain Acyl-CoA Dehydrogenase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/24897

  MCADD has no definitive treatment; management primarily involves acute and long-term dietary interventions to prevent prolonged fasting and ensure adequate nutritional intake to meet metabolic demands during stress. […] In symptomatic patients, reversal of catabolism and treatment of hypoglycemia are the mainstay of therapy. Simple carbohydrate administration in patients who tolerate sufficient oral intake is preferred. […] Some specialists recommend a home glucose monitoring plan during acute illness or when hypoglycemic symptoms are suspected. However, subsequent management should be conducted in consultation with a metabolic specialist. Teaching caregivers about glucose requirements during acute illness and suspected decompensation is imperative. […] The main goal of long-term management is to prevent prolonged fasting. The maximum fasting times vary by age. However, there is no consensus regarding the maximum fasting time for a given age.

• #22 MCADD (medium chain acyl-CoA dehydrogenase deficiency) – newbornscreening.info

  https://www.newbornscreening.info/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency/

  2. Diet Sometimes a diet that is low in fat and high in carbohydrates is recommended. […] 3. L-carnitine Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. […] 4. Call your doctor at the start of any illness Always call your health care provider when your child has any of the following: poor appetite, low energy or excessive sleepiness, vomiting, diarrhea, an infection, a fever. […] With prompt and careful treatment, children with MCADD usually live healthy lives with typical growth and development. The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may have life-long learning disabilities, spasticity, chronic muscle weakness, or other effects.

• #23 Medium Chain acyl-CoA Dehydrogenase Deficiency – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/

  There is no cure for MCADD. It is a lifelong condition. However, once you know that you or your baby has the condition, it is manageable. The aim of treatment is to prevent and control the acute metabolic crisis. […] Avoid long periods without food. It is dangerous and therefore frequent intakes of food are required. However, when well, a normal infant feeding pattern, or regular healthy eating meals with a good starch intake, is all that is needed. The pattern of feeding in breast fed babies is very appropriate for an MCADD baby. […] Follow your emergency regimen – when you receive your diagnosis you will be given an emergency regimen explaining what to do if you or your child becomes ill. This includes getting bugs such as vomiting, diarrhoea and fever. Glucose polymer (energy rich drinks) are given regularly during the illness. The most common of these are Maxijul, Polycal or SOS which are all available on prescription and you will be given advice on how to use them. If you are unable to tolerate these drinks, continue to be ill and/or develop diarrhoea then you will need to be admitted to hospital to be given a glucose/dextrose drip as soon as possible. You will be given an emergency contact number to ring, however if this is unavailable call 999 for an ambulance or go to your nearest hospital’s accident and emergency (A&E) for treatment. […] Once this disorder has been diagnosed and appropriate treatment given the prognosis is extremely good. Children will develop entirely normally and can participate in all the activities appropriate for their age.

• #24 Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9836253/

  Dietary supplementation of Lcarnitines is controversial. […] It has been theorized that Lcarnitine supplementation may alleviate the secondary carnitine deficiency from acylcarnitine ester accumulation. […] MCADDaffected individuals are at risk of developing related conditions; longterm management should include regular screening for symptoms by a physician. […] It is recommended that dietary management be supervised by a general physician or dietician. […] The development of several experimental treatments have been initiated in the last number of years including pharmacological intervention and gene therapy, though comparisons of intervention efficacy across different trials is significantly hindered by different groups utilizing different outcome measures. […] Currently, the drug glycerol phenylbutyrate, called Ravicti, has been evaluated as an experimental treatment for MCADD patients to improve MCAD stability and reduce metabolite buildup. […] As with many inborn errors of metabolism, gene therapy provides an exciting avenue for treatment development, particularly given evidence that even moderate increase in enzyme function can improve patient outcomes.

• #25 Medium-chain acyl-coenzyme A dehydrogenase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency

  MCADD is most prevalent in individuals of Northern European Caucasian descent, with an incidence of 1:4000 to 1:17,000 depending on the population. Treatment of MCADD is mainly preventive, by avoiding fasting and other situations where the body relies on fatty acid oxidation to supply energy. […] As with most other fatty acid oxidation disorders, individuals with MCADD need to avoid fasting for prolonged periods of time. During illnesses, they require careful management to stave off metabolic decompensation, which can result in death. Supplementation of simple carbohydrates or glucose during illness is key to prevent catabolism. […] Individuals with MCADD should have an „emergency letter” that allows medical staff who are unfamiliar with the patient and the condition to administer correct treatment properly in the event of acute decompensation. This letter should outline the steps needed to intervene in a crisis and have contact information for specialists familiar with the individual’s care.

• #26 Medium-Chain Acyl-CoA Dehydrogenase Deficiency – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/medium-chain-acyl-coa-dehydrogenase-deficiency/

  An emergency protocol letter is recommended for all patients, outlining pertinent findings of this disorder, giving detailed management instructions and providing contact information for the patient’s metabolic specialist. […] Several potential future therapies are also in the works such as nitrogen scavengers, gene therapy, and proteomics testing. However, these are yet to be proven effective and safe for human use.

• #27 MCADD

  https://www.nhs.uk/conditions/mcadd/

  There’s no specific treatment for MCADD. A specialist care team will give you advice about how to look after your child and support them as they get older. […] Children and adults with MCADD can eat a normal diet, as long as they: […] frequently take special high-sugar drinks when they’re ill this includes common illnesses such as a high temperature, diarrhoea, or vomiting […] avoid long periods without eating during the newborn period and infancy even when well the length of time your child can go without eating is known as the maximum „safe fasting time” and it varies depending on age; you’ll be given advice about this. […] The high-sugar drinks used for treating MCADD are available on prescription from a GP. You’ll be advised by a specialist dietitian about when to use them and how much to use. If the drinks do not help or your child refuses them, they may need to be treated in hospital. […] You can find more detailed information about MCADD treatment in the British Inherited Metabolic Diseases Group (BIMDG) MCADD information sheet for parents and carers (PDF, 116kb).

• #28 MCAD deficiency – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/diagnosis-treatment/drc-20353747

  Eat regular meals and snacks with adequate calories from complex carbohydrates, such as brown bread, rice, pasta and cereal, for energy needs. […] Choose foods that are high in complex carbohydrates and lower in fat. […] Increase calories by eating extra complex carbohydrates during illness, stress or increased activity and before going to sleep. […] Talk with your health care provider about what to do if symptoms of low blood sugar develop so that you have an emergency plan. […] Strategies may include: Taking simple carbohydrates, such as sugar (glucose) tablets or sweetened beverages, such as juice, that are not labeled „diet.” […] Seeking emergency medical care if you can’t eat or if you have diarrhea or vomiting. An intravenous (IV) line for extra glucose and additional treatment may be needed.

• #29 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #30 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #31 Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcadd

  These acute illness materials are a guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with medium chain acyl-CoA dehydrogenase deficiency (MCADD), a fatty acid oxidation disorder (FAOD). […] Metabolic crises in infants/children with FAOD are medical emergencies and must be treated as such to avoid death or serious brain injury. […] These materials are only a guideline and should not be used for definitive treatment without metabolic consultation. […] Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most frequent of the fatty acid oxidation disorders (FAOD) and one of the most frequently identified inborn errors of metabolism. […] Immediate attention and therapy is the key to preventing sudden death. […] Treatment: 1. INDICATION FOR IV (NEVER less than 10% dextrose IV infusion) (One or more indication is sufficient for IV)

• #32 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #33 Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcadd

  2. HYPOGLYCEMIA […] 3. METABOLIC ACIDOSIS (Bicarbonate level 16mEq/L) […] 4. PRECIPITATING FACTORS […] 5. APPARENTLY WELL […] Post-Emergency Management: 1. Child unable to take/maintain PO intake […] 2. Carnitine The use of carnitine in FAODs is controversial and there are concerns that excessive long chain acyl carnitines which may be produced may induce arrhythmias. […] 3. DO NOT ADMINISTER LIPIDS IN ANY FORM […] 4. Other medications […] 5. Avoidance of fasting when stop IVI

• #34 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #35 Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9836253/

  Dietary supplementation of Lcarnitines is controversial. […] It has been theorized that Lcarnitine supplementation may alleviate the secondary carnitine deficiency from acylcarnitine ester accumulation. […] MCADDaffected individuals are at risk of developing related conditions; longterm management should include regular screening for symptoms by a physician. […] It is recommended that dietary management be supervised by a general physician or dietician. […] The development of several experimental treatments have been initiated in the last number of years including pharmacological intervention and gene therapy, though comparisons of intervention efficacy across different trials is significantly hindered by different groups utilizing different outcome measures. […] Currently, the drug glycerol phenylbutyrate, called Ravicti, has been evaluated as an experimental treatment for MCADD patients to improve MCAD stability and reduce metabolite buildup. […] As with many inborn errors of metabolism, gene therapy provides an exciting avenue for treatment development, particularly given evidence that even moderate increase in enzyme function can improve patient outcomes.

• #36 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management: Medical Care, Consultations, Diet

  https://emedicine.medscape.com/%20https://emedicine.medscape.com/article/946755-treatment

  A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any fasting period longer than 4-5 hours. […] Carnitine administration has been advocated on the basis of recognition of the biochemical role of carnitine in permitting conjugation and excretion of toxic intermediates. However, the evidence for any therapeutic effect is sparse and mostly anecdotal. […] A recent study provides no evidence that supplemental carnitine administration is beneficial in moderate exercise states. […] Moreover, patients with MCAD deficiency can replenish their stores of carnitine to compensate for carnitine losses with exercise. […] Diet should be adjusted to supply requisite nutrition for normal growth and avoid fasting periods of more than 4-5 hours in infants younger than 6 months. Thereafter, fasting of more than 8 hours should be avoided in infants aged 6-12 months, and fasting of more than 10 hours should be avoided in patients aged 12-24 months. Subsequently, no affected individual should be permitted to fast longer than 12 hours. […] Because the fundamental biochemical defect is in fatty acid oxidation, the composition of the diet should be adjusted to provide greater caloric density in carbohydrates and proteins and minimize lipids.

• #37 Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9836253/

  Dietary supplementation of Lcarnitines is controversial. […] It has been theorized that Lcarnitine supplementation may alleviate the secondary carnitine deficiency from acylcarnitine ester accumulation. […] MCADDaffected individuals are at risk of developing related conditions; longterm management should include regular screening for symptoms by a physician. […] It is recommended that dietary management be supervised by a general physician or dietician. […] The development of several experimental treatments have been initiated in the last number of years including pharmacological intervention and gene therapy, though comparisons of intervention efficacy across different trials is significantly hindered by different groups utilizing different outcome measures. […] Currently, the drug glycerol phenylbutyrate, called Ravicti, has been evaluated as an experimental treatment for MCADD patients to improve MCAD stability and reduce metabolite buildup. […] As with many inborn errors of metabolism, gene therapy provides an exciting avenue for treatment development, particularly given evidence that even moderate increase in enzyme function can improve patient outcomes.

• #38 Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (MCADD) Treatment & Management: Medical Care, Consultations, Diet

  https://emedicine.medscape.com/%20https://emedicine.medscape.com/article/946755-treatment

  A major component of the medical treatment of medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency is a diet that permits adequate nutrition and avoids any fasting period longer than 4-5 hours. […] Carnitine administration has been advocated on the basis of recognition of the biochemical role of carnitine in permitting conjugation and excretion of toxic intermediates. However, the evidence for any therapeutic effect is sparse and mostly anecdotal. […] A recent study provides no evidence that supplemental carnitine administration is beneficial in moderate exercise states. […] Moreover, patients with MCAD deficiency can replenish their stores of carnitine to compensate for carnitine losses with exercise. […] Diet should be adjusted to supply requisite nutrition for normal growth and avoid fasting periods of more than 4-5 hours in infants younger than 6 months. Thereafter, fasting of more than 8 hours should be avoided in infants aged 6-12 months, and fasting of more than 10 hours should be avoided in patients aged 12-24 months. Subsequently, no affected individual should be permitted to fast longer than 12 hours. […] Because the fundamental biochemical defect is in fatty acid oxidation, the composition of the diet should be adjusted to provide greater caloric density in carbohydrates and proteins and minimize lipids.

• #39 MCAD Deficiency Diagnosis and Treatment

  https://informnetwork.org/mcad-deficiency/

  Day-to-day management of this disorder consists of avoiding excessive fasting, as it could lead to a coma. How long infants should only go without food will depend on their age, but it’s typically only a few hours. Overnight fasts of 8 hours are allowed after 6 months of age. Children over one year of age can usually safely go without food for 12 to 18 hours. […] Patients appear to tolerate normal diets, but it is reasonable to modestly reduce dietary fat to < 30% of daily calories because this fuel cannot be used efficiently in MCAD deficiency. Formulas containing medium-chain triglyceride oil should be avoided. MCAD patients tend to have low blood levels of carnitine, but the use of carnitine supplementation is controversial. Some fatty acid oxidation research suggests a supplement of 50 to 100 mg/day of oral carnitine, but its usefulness is not proven.

• #40 Secondary Carnitine Deficiency risk in MCADD Patient – INFORM Network

  https://informnetwork.org/question/secondary-carnitine-deficiency-risk-in-mcadd-patient/

  Secondary Carnitine Deficiency risk in MCADD Patient […] She was initially prescribed a carnitine supplement as a baby and has been off this supplementation for about a year. […] Because of the low level though, her metabolic nurses have classified her as having mild secondary carnitine deficiency. […] Muscle fatigue, exercise intolerance, or muscle cramps. If this occurs, is the recommended treatment to have a carnitine supplement on hand? […] Nearly all patients with MCAD deficiency have low blood carnitine levels and current consensus is to not treat unless patients are symptomatic. […] You should watch for exercise intolerance, fatigue, or muscle cramps.

• #41 Secondary Carnitine Deficiency risk in MCADD Patient – INFORM Network

  https://informnetwork.org/question/secondary-carnitine-deficiency-risk-in-mcadd-patient/

  Secondary Carnitine Deficiency risk in MCADD Patient […] She was initially prescribed a carnitine supplement as a baby and has been off this supplementation for about a year. […] Because of the low level though, her metabolic nurses have classified her as having mild secondary carnitine deficiency. […] Muscle fatigue, exercise intolerance, or muscle cramps. If this occurs, is the recommended treatment to have a carnitine supplement on hand? […] Nearly all patients with MCAD deficiency have low blood carnitine levels and current consensus is to not treat unless patients are symptomatic. […] You should watch for exercise intolerance, fatigue, or muscle cramps.

• #42 Merged Actionability Release – Clinical Genome Resources

  https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1016

  Low-dose L-carnitine supplementation is recommended when carnitine levels are below the normal range. Individuals with MCAD deficiency may develop a secondary carnitine deficiency as excess medium chain fatty acids bind to free carnitine and are excreted. […] Individuals should be provided with an emergency protocol/letter to carry at all times. They should be strongly advised to seek medical attention if the individual with MCAD deficiency has an acute illness accompanied by poor intake, vomiting, and/or lethargy. […] Pregnant women should receive supplemental carnitine to account for reduced plasma free carnitine levels during pregnancy, though free carnitine may still not reach pre-pregnancy levels. […] Regular surveillance should include assessment of anthropometrics, blood carnitine, and diet.

• #43 MCAD Deficiency

  https://my.clevelandclinic.org/health/diseases/21973-mcad-deficiency

  Treatment for MCAD deficiency focuses on meeting nutritional requirements for your child’s body and reducing long periods of time between meals, which may trigger symptoms of the condition. Dietary requirements for MCAD deficiency include: […] Scheduling meals more frequently throughout the day. […] Eating a diet high in carbohydrates. […] Avoiding excessive fat in your child’s diet (heart-healthy diet). […] Taking carnitine supplements to assist fat to energy conversion. […] For adults with MCAD deficiency, excessive alcohol consumption may cause severe symptoms (metabolic crisis). If this occurs, taking a glucose supplement or eating foods high in sugar helps manage the side effects of the condition. […] Symptoms of MCAD deficiency vary based on the severity of the diagnosis. Symptoms arise during long periods without eating. Scheduling meals more frequently throughout the day helps minimize symptoms of the condition. Eating complex carbohydrates like whole grains, some types of vegetables and beans before bedtime alleviates the need to wake up in the middle of the night to maintain steady glucose levels. […] Your healthcare provider might recommend meeting with a dietitian to monitor your child’s diet and exercise and to advise on healthy eating habits to alleviate symptoms of the condition.

• #44

  https://www.sgh.com.sg/patient-care/conditions-treatments/medium-chain-acyl-coa-dehydrogenase-deficiency

  The management of MCADD includes: […] Most people with MCADD, with appropriate care and management, go on to live long, healthy lives. […] As MCADD is a lifelong condition, there will be regular monitoring of growth and development, and assessment of diet and nutrition. […] Avoidance of fasting […] Use of emergency treatment protocol […] Use of emergency regimen (provided by dietitian) […] Carnitine supplementation in some cases (if carnitine level is low) […] Intravenous glucose drip in the hospital if the child vomits or refuses to eat […] Avoidance of concentrated sources of medium-chain triglycerides (MCT), like MCT oil and specialised products with high MCT oil content.

• #45

  https://www.sgh.com.sg/patient-care/conditions-treatments/medium-chain-acyl-coa-dehydrogenase-deficiency

  The management of MCADD includes: […] Most people with MCADD, with appropriate care and management, go on to live long, healthy lives. […] As MCADD is a lifelong condition, there will be regular monitoring of growth and development, and assessment of diet and nutrition. […] Avoidance of fasting […] Use of emergency treatment protocol […] Use of emergency regimen (provided by dietitian) […] Carnitine supplementation in some cases (if carnitine level is low) […] Intravenous glucose drip in the hospital if the child vomits or refuses to eat […] Avoidance of concentrated sources of medium-chain triglycerides (MCT), like MCT oil and specialised products with high MCT oil content.

• #46

  https://www.sgh.com.sg/patient-care/conditions-treatments/medium-chain-acyl-coa-dehydrogenase-deficiency

  The management of MCADD includes: […] Most people with MCADD, with appropriate care and management, go on to live long, healthy lives. […] As MCADD is a lifelong condition, there will be regular monitoring of growth and development, and assessment of diet and nutrition. […] Avoidance of fasting […] Use of emergency treatment protocol […] Use of emergency regimen (provided by dietitian) […] Carnitine supplementation in some cases (if carnitine level is low) […] Intravenous glucose drip in the hospital if the child vomits or refuses to eat […] Avoidance of concentrated sources of medium-chain triglycerides (MCT), like MCT oil and specialised products with high MCT oil content.

• #47 Merged Actionability Release – Clinical Genome Resources

  https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1016

  Low-dose L-carnitine supplementation is recommended when carnitine levels are below the normal range. Individuals with MCAD deficiency may develop a secondary carnitine deficiency as excess medium chain fatty acids bind to free carnitine and are excreted. […] Individuals should be provided with an emergency protocol/letter to carry at all times. They should be strongly advised to seek medical attention if the individual with MCAD deficiency has an acute illness accompanied by poor intake, vomiting, and/or lethargy. […] Pregnant women should receive supplemental carnitine to account for reduced plasma free carnitine levels during pregnancy, though free carnitine may still not reach pre-pregnancy levels. […] Regular surveillance should include assessment of anthropometrics, blood carnitine, and diet.

• #48 Medium Chain acyl-CoA Dehydrogenase Deficiency – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/

  There is no cure for MCADD. It is a lifelong condition. However, once you know that you or your baby has the condition, it is manageable. The aim of treatment is to prevent and control the acute metabolic crisis. […] Avoid long periods without food. It is dangerous and therefore frequent intakes of food are required. However, when well, a normal infant feeding pattern, or regular healthy eating meals with a good starch intake, is all that is needed. The pattern of feeding in breast fed babies is very appropriate for an MCADD baby. […] Follow your emergency regimen – when you receive your diagnosis you will be given an emergency regimen explaining what to do if you or your child becomes ill. This includes getting bugs such as vomiting, diarrhoea and fever. Glucose polymer (energy rich drinks) are given regularly during the illness. The most common of these are Maxijul, Polycal or SOS which are all available on prescription and you will be given advice on how to use them. If you are unable to tolerate these drinks, continue to be ill and/or develop diarrhoea then you will need to be admitted to hospital to be given a glucose/dextrose drip as soon as possible. You will be given an emergency contact number to ring, however if this is unavailable call 999 for an ambulance or go to your nearest hospital’s accident and emergency (A&E) for treatment. […] Once this disorder has been diagnosed and appropriate treatment given the prognosis is extremely good. Children will develop entirely normally and can participate in all the activities appropriate for their age.

• #49 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #50 Medium-chain acyl-CoA dehydrogenase deficiency – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/medium-chain-acyl-coa-dehydrogenase-deficiency/

  The most important preventative management is the avoidance of fasting. This is achieved by regular feeding in infancy, and providing older patients with complex carbohydrate before sleeping to ensure a sufficient supply of glucose overnight. […] For symptomatic patients, simple carbohydrates by mouth are the first line treatment (for example, glucose sweets). […] If patients are unable to meet their anabolic requirements orally, then IV dextrose replacement can be given. The aim of this is to maintain blood glucose levels (5mmol/L). […] Patients have an excellent prognosis if they avoid fasting, and are managed appropriately during a crisis. […] Patients with MCADD are prone to excessive weight gain, and so should receive specialist education regarding proper nutrition and safe physical exercise.

• #51 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  Management. Treatment of manifestations: For routine daily treatment, fasting should be avoided and may require frequent feeding (every 2-3 hours) in infancy, overnight feeding, a bedtime snack, or 2 g/kg of uncooked cornstarch to maintain blood glucose levels during sleep. A normal, healthy diet containing no more than 30% of total energy from fat is recommended. All individuals with MCAD deficiency should avoid skipping meals and weight loss diets that recommend fasting. Prolonged or intense exercise should be covered by adequate carbohydrate intake and hydration. Intravenous glucose is recommended for surgical procedures that require several hours of fasting. Weight control measures such as regular education about proper nutrition and recommended physical exercise should be discussed to help avoid obesity. Standard treatment for developmental delay / aphasia, attention-deficit/hyperactivity disorder, and muscle weakness. For acute inpatient treatment, IV administration of glucose should be initiated immediately with 10% dextrose with appropriate electrolytes at a rate of 1.5 times maintenance rate or at 10-12 mg glucose/kg/minute to achieve and maintain a blood glucose level higher than 5 mmol/L, or between 120 and 170 mg/dL. Address electrolyte and pH imbalances with intravenous fluid management and initiate appropriate treatment for what triggered the metabolic stress.

• #52 Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency

  There is no cure for MCAD deficiency, but it is treatable. Treatment focuses on helping your child maintain normal blood sugar levels by eating regular healthy meals. […] If your child experiences severely low blood sugar (also called hypoglycemia), they may need to go to the Emergency Department to receive high-dextrose (sugar) fluids intravenously. […] Treatment also includes avoiding: […] If left untreated or not treated promptly and properly, MCAD deficiency can lead to brain injury, developmental delays, attention-deficit disorder, muscle weakness, reduced exercise tolerance, irregular heartbeats (cardiac arrhythmia), low blood sugar (hypoglycemia), liver disease, kidney disease and, in rare cases, sudden and unexpected death. […] CHOP is currently conducting clinical trials and researching new therapies for MCAD deficiency.

• #53 Going to the Emergency Room with MCADD

  https://www.massgeneral.org/children/mcadd

• #54 Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

  https://ctv.veeva.com/study/study-of-sodium-phenylbutyrate-acer-001-for-the-treatment-of-pediatric-and-adults-patients-with-me

  This is a medical research study to test a medication in patients 4 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 AG (K304E) mutation. The medication is sodium phenylbutyrate (ACER-001), which is currently FDA approved for the treatment of Urea Cycle Disorders. Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD. […] All participants will be dosed at 4.0 g/m2/day divided two times a day. […] 4.0 g/m2/day BID sodium phenylbutyrate Experimental group Description: Up to 24 subjects (12: ages 4-9 years old; 12:10 years of age and older) will be randomized to take 4.0 g/m2/day divided into two daily doses Treatment: Drug: Sodium phenylbutyrate.

• #55

  https://www.trialx.com/clinical-trials/listings/239423/study-of-triheptanoin-for-the-prevention-of-hypoglycemia-in-patients-with-medium-chain-acyl-coa-dehydrogenase-deficiency-mcadd/

  This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with MCADD. […] Dosing for this study will begin at 0.2 gm/kg/day up to a dose of 1.0 gm/kg/day. The dose will be increased gradually to avoid gastric upset. The dose should be divided into 3 or 4 daily doses and given with food or liquid. The dose can be decreased if a subject experiences any gastric upset that indicates that they cannot tolerate the higher dose.

• #56 Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency

  An area that shows great promise is cell and gene therapy. […] Cell and gene therapy is an innovative and cutting-edge approach to treating certain genetic disorders like MCAD deficiency. Researchers at CHOP have pioneered some of the first FDA-approved cell and gene therapies for use in children. And we continue to investigate new ways of treating and potentially curing genetic disorders in children.

• #57 Exploring therapeutic approaches for treatment of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency – D-Scholarship@Pitt

  http://d-scholarship.pitt.edu/21078/

  Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a common biochemical genetic disorder in the US. The goal of this project was to identify chemical chaperones capable of stabilizing the K304E MCAD protein. Since even a small amount of MCAD activity restores metabolic flux, inducing intra-mitochondrial folding of K304E MCAD has the potential to be protective for patients. To demonstrate proof of principle, dimethylsulfoxide, glycerol, betaine, trimethylamine N-oxide (TMAO), and L-proline were tested for the ability to increase MCAD activity in lymphoblasts having c.985GA alleles. TMAO and glycerol significantly increased MCAD activity in these cells. A clinical trial testing the efficacy of phenylbutyrate in MCAD patients is underway. These results confirm that ETF docking site is a viable target for MCADD. […] New treatments for MCADD will significantly reduce the burden of disease on these patients.

• #58 Exploring therapeutic approaches for treatment of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency – D-Scholarship@Pitt

  http://d-scholarship.pitt.edu/21078/

  Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a common biochemical genetic disorder in the US. The goal of this project was to identify chemical chaperones capable of stabilizing the K304E MCAD protein. Since even a small amount of MCAD activity restores metabolic flux, inducing intra-mitochondrial folding of K304E MCAD has the potential to be protective for patients. To demonstrate proof of principle, dimethylsulfoxide, glycerol, betaine, trimethylamine N-oxide (TMAO), and L-proline were tested for the ability to increase MCAD activity in lymphoblasts having c.985GA alleles. TMAO and glycerol significantly increased MCAD activity in these cells. A clinical trial testing the efficacy of phenylbutyrate in MCAD patients is underway. These results confirm that ETF docking site is a viable target for MCADD. […] New treatments for MCADD will significantly reduce the burden of disease on these patients.

• #59 MCADD (medium chain acyl-CoA dehydrogenase deficiency) – newbornscreening.info

  https://www.newbornscreening.info/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency/

  2. Diet Sometimes a diet that is low in fat and high in carbohydrates is recommended. […] 3. L-carnitine Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. […] 4. Call your doctor at the start of any illness Always call your health care provider when your child has any of the following: poor appetite, low energy or excessive sleepiness, vomiting, diarrhea, an infection, a fever. […] With prompt and careful treatment, children with MCADD usually live healthy lives with typical growth and development. The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may have life-long learning disabilities, spasticity, chronic muscle weakness, or other effects.

• #60 Medium Chain acyl-CoA Dehydrogenase Deficiency – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/medium-chain-acyl-coa-dehydrogenase-deficiency/

  There is no cure for MCADD. It is a lifelong condition. However, once you know that you or your baby has the condition, it is manageable. The aim of treatment is to prevent and control the acute metabolic crisis. […] Avoid long periods without food. It is dangerous and therefore frequent intakes of food are required. However, when well, a normal infant feeding pattern, or regular healthy eating meals with a good starch intake, is all that is needed. The pattern of feeding in breast fed babies is very appropriate for an MCADD baby. […] Follow your emergency regimen – when you receive your diagnosis you will be given an emergency regimen explaining what to do if you or your child becomes ill. This includes getting bugs such as vomiting, diarrhoea and fever. Glucose polymer (energy rich drinks) are given regularly during the illness. The most common of these are Maxijul, Polycal or SOS which are all available on prescription and you will be given advice on how to use them. If you are unable to tolerate these drinks, continue to be ill and/or develop diarrhoea then you will need to be admitted to hospital to be given a glucose/dextrose drip as soon as possible. You will be given an emergency contact number to ring, however if this is unavailable call 999 for an ambulance or go to your nearest hospital’s accident and emergency (A&E) for treatment. […] Once this disorder has been diagnosed and appropriate treatment given the prognosis is extremely good. Children will develop entirely normally and can participate in all the activities appropriate for their age.

• #61 Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) | Newborn Screening Ontario

  https://www.newbornscreening.on.ca/en/results/screen-positive-results/disease-information/medium-chain-acyl-coa-dehydrogenase-deficiency-mcadd/

  Treatment is started as early as possible and is usually life long. […] Treatment involves: Frequent feeding, especially when ill. To prevent a metabolic crisis, babies with MCADD must not go a long time without eating. […] Aggressive treatment of illnesses. Children with MCADD may need to go to the hospital for minor illnesses like a cold or flu, and any time they stop eating. […] A diet low in certain fats may be recommended. […] Supplements such as carnitine may be prescribed. These help the baby’s body process fats. […] A team, including a metabolic doctor and a dietitian, cares for babies with MCADD. […] Babies with MCADD have their health and development checked regularly. […] If signs of a metabolic crisis (above) are present, urgent medical care must be found. […] Treatment is very effective at preventing metabolic crises. […] With early treatment and careful monitoring most babies with MCADD will lead healthy lives with normal growth and intelligence.

• #62 Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/medium-chain-acyl-coa-dehydrogenase-mcad-deficiency

  There is no cure for MCAD deficiency, but it is treatable. Treatment focuses on helping your child maintain normal blood sugar levels by eating regular healthy meals. […] If your child experiences severely low blood sugar (also called hypoglycemia), they may need to go to the Emergency Department to receive high-dextrose (sugar) fluids intravenously. […] Treatment also includes avoiding: […] If left untreated or not treated promptly and properly, MCAD deficiency can lead to brain injury, developmental delays, attention-deficit disorder, muscle weakness, reduced exercise tolerance, irregular heartbeats (cardiac arrhythmia), low blood sugar (hypoglycemia), liver disease, kidney disease and, in rare cases, sudden and unexpected death. […] CHOP is currently conducting clinical trials and researching new therapies for MCAD deficiency.

• #63 Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1424/

  There is no cure for MCAD deficiency. However, routine dietary therapy can ameliorate and/or prevent symptoms of this condition. […] Avoidance of fasting remains the cornerstone of MCAD deficiency treatment. Although management of any given affected individual is nuanced and managed on a case-by-case basis, minor illnesses, where caloric needs are increased or provision of adequate calories is compromised, should be observed closely and promptly treated with a low threshold for hospital admission. An emergency management protocol should be in place and parents or caregivers should be given an emergency letter.

• #64 MCAD deficiency – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/symptoms-causes/syc-20353745

  MCAD deficiency is present from birth and is a lifelong condition. […] If MCAD deficiency is diagnosed and treated early, the disorder can be well managed through diet and lifestyle. […] In the United States and many other countries, newborn screening programs test for MCAD deficiency. After your first evaluation, you may be referred to a specialist in evaluating and treating MCAD deficiency. […] Contact your health care team if you’ve been diagnosed with MCAD deficiency and have a high fever, no appetite, stomach or digestive symptoms, or a planned medical procedure that requires fasting.

• #65 MCAD Deficiency: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/mcad-overview-4175022

  If a person with MCAD deficiency becomes ill and cannot eat, they may need to receive nutrition and fluids through an IV drip or feeding tube at the hospital to prevent complications. […] If MCAD deficiency is properly managed, a person can live a long and healthy life. […] People with MCAD deficiency usually need to adhere to a diet that is high in carbohydrates and low in fat. They also need to avoid long periods of fasting. If properly managed, most people with MCAD deficiency can lead normal, healthy lives.

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