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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Maple Syrup Urine Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Maple Syrup Urine Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Maple Syrup Urine Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Maple Syrup Urine Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Maple Syrup Urine Disease
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Maple Syrup Urine Disease

Preferred term

Maple Syrup Urine Disease  

Type

  • mesh:Descriptor

Definition

  • 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)

Broader concept

Related concepts

Entry terms

  • BCKD Deficiency
  • Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency
  • Branched-Chain Ketoaciduria
  • Keto Acid Decarboxylase Deficiency
  • MSUD (Maple Syrup Urine Disease)

Allowable Qualifier(s)

In other languages

  • Leucinose

    French

  • Déficit en alpha cétodécarboxylases
  • Déficit en céto-acide décarboxylase
  • Maladie des urines à odeur de sirop d'érable
  • Maladie du sirop d'érable

URI

http://data.loterre.fr/ark:/67375/JVR-LN8836V9-Z

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