Dihydrolipoamide dehydrogenase deficiency

(E3 deficiency)

Type

Disease
External link(s)
Gene
- DLD / Dihydrolipoamide Dehydrogenase
  7q31.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Dihydrolipoamide dehydrogenase
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.1 Disorders of pyruvate metabolism