Maple Syrup Urine Disease

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:

BCKD Deficiency; 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; Keto Acid Decarboxylase Deficiency; MSUD (Maple Syrup Urine Disease); Maple Syrup Urine Disease, Classic; Maple Syrup Urine Disease, Classical; Maple Syrup Urine Disease, Intermediate; Maple Syrup Urine Disease, Intermittent; Maple Syrup Urine Disease, Thiamine Responsive; Maple Syrup Urine Disease, Thiamine-Responsive; Branched Chain Ketoaciduria; Branched Chain alpha Keto Acid Dehydrogenase Deficiency; Branched-Chain Ketoacidurias; Ketoaciduria, Branched-Chain; Ketoacidurias, Branched-Chain; Branched-Chain Ketoaciduria; Thiamine Responsive Maple Syrup Urine Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Maple Syrup Urine Disease: 712
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Maple Syrup Urine Disease: 712
    - Inborn Errors Amino Acid Metabolism: 1
      - Maple Syrup Urine Disease: 712
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Maple Syrup Urine Disease: 712
    - Inborn Errors Amino Acid Metabolism: 1
      - Maple Syrup Urine Disease: 712
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Maple Syrup Urine Disease: 712

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Disease

Drug/Important Bio-Agent (IBA)