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Maple Syrup Urine Disease Summary

Description: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)

Also Known As: Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency; Classic Maple Syrup Urine Disease; Classical Maple Syrup Urine Disease; Intermediate Maple Syrup Urine Disease; Intermittent Maple Syrup Urine Disease Show All >>

Networked: 458 relevant articles (8 outcomes, 26 trials/studies) for this Disease

Key Drugs and Agents for Maple Syrup Urine Disease

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Acids : 1 outcome 4 studies in 14 results : IBA
  2. Branched-Chain Amino Acids : 1 outcome 3 studies in 92 results : IBA
  3. Leucine (L-Leucine) : 1 outcome 1 study in 81 results : FDA 31
  4. Amino Acids : 1 outcome 1 study in 31 results : FDA 53
  5. Neurotransmitter Agents (Neurotransmitter) : 1 outcome in 6 results : IBA
  6. Keto Acids : 5 studies in 44 results : IBA
  7. Proteins (Proteins, Gene) : 4 studies in 5 results : IBA
  8. Isoleucine (L-Isoleucine) : 3 studies in 63 results : FDA 31
  9. Glutamic Acid (Glutamate) : 3 studies in 4 results : FDA 7
  10. Methylmalonic acidemia : 2 studies in 16 results : IBA
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Diseases Related to Maple Syrup Urine Disease

  1. Metabolic Diseases (Metabolic Disease)
  2. Body Weight (Weight, Body)
  3. Familial Amyloid Neuropathies (Familial Amyloid Polyneuropathy)
  4. Hypervitaminosis A
  5. Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
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Key Therapies for Maple Syrup Urine Disease

Efficacy Chart >>
  1. Transplants (Transplant) : 3 outcomes in 3 results
  2. Liver Transplantation : 2 outcomes 1 study in 16 results
  3. Transplantation (Transplant Recipients) : 2 outcomes in 4 results
  4. Peritoneal Dialysis : 1 outcome 1 study in 6 results
  5. Renal Dialysis (Hemodialysis) : 3 results
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