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An Entity of Type : skos:Concept, within Data Space : data.idref.fr associated with source document(s)

AttributesValues
type
sameAs
notation
  • C10.228.140.163.100.520
  • C16.320.565.100.608
  • C16.320.565.189.520
  • C18.452.132.100.520
  • C18.452.648.100.608
  • C18.452.648.189.520
alternative label
  • Déficit en céto-acide décarboxylase
  • Maladie des urines à odeur de sirop d'érable
  • Maladie du sirop d'érable
  • Déficit en alpha cétodécarboxylases
  • Intermittent Maple Syrup Urine Disease
  • Ketoaciduria, Branched-Chain
  • Leucinose intermédiaire
  • Leucinose thiamine-sensible
  • Maple Syrup Urine Disease, Intermediate
  • Maple Syrup Urine Disease, Thiamine-Responsive
  • Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency
  • Branched Chain alpha Keto Acid Dehydrogenase Deficiency
  • BCKD Deficiency
  • Branched-Chain Ketoacidurias
  • Classical Maple Syrup Urine Disease
  • Keto Acid Decarboxylase Deficiency
  • Ketoacidurias, Branched-Chain
  • Leucinose intermittente
  • MSUD (Maple Syrup Urine Disease)
  • Maple Syrup Urine Disease, Classic
  • Branched Chain Ketoaciduria
  • Classic Maple Syrup Urine Disease
  • Intermediate Maple Syrup Urine Disease
  • Leucinose classique
  • Maple Syrup Urine Disease
  • Maple Syrup Urine Disease, Classical
  • Maple Syrup Urine Disease, Intermittent
  • Maple Syrup Urine Disease, Thiamine Responsive
  • Thiamine Responsive Maple Syrup Urine Disease
  • Branched-Chain Ketoaciduria
preferred label
  • Leucinose
is in scheme
note
  • 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)
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