Maple syrup urine disease

Maple syrup urine disease (disorder)

active

Code	`27718001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

BCKD - branched-chain 2-ketoacid dehydrogenase deficiency
Branched chain ketoacid dehydrogenase deficiency
Branched chain ketoaciduria
Branched-chain alpha-keto acid dehydrogenase deficiency
Ketoacid decarboxylase deficiency
Ketoacidaemia
Ketoacidemia
MSUD - maple syrup urine disease
Oxo-acid decarboxylase deficiency

Parents (4)

85995004Autosomal recessive hereditary disorder disorder
116020001Disorder of branched-chain amino acid metabolism disorder
78548001Enzymopathy disorder
86095007Inborn error of metabolism disorder

Children (7)

54064006Classical maple syrup urine disease disorder
29914000Dihydrolipoamide dehydrogenase deficiency disorder
405287008Intermediate maple syrup urine disease disorder
405288003Intermittent maple syrup urine disease disorder
71702000Maple syrup urine disease, multiple dehydrogenase form disorder
23156007Mild maple syrup urine disease disorder
31368008Thiamin-responsive maple syrup urine disease disorder