Visualize Submit Comment

Metadata
ID	DOID:0061204
Name	dihydrolipoamide dehydrogenase deficiency
Definition	A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31. https://pubmed.ncbi.nlm.nih.gov/8968745/
Xrefs	MIM:246900
Parent Relationships	is_a maple syrup urine disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance