Search Ontology:
Human Disease
dihydrolipoamide dehydrogenase deficiency
- Term ID
- DOID:0061204
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0061204 )
Other Pages
Genes Involved
Zebrafish Models