2-Aminoadipic 2-oxoadipic aciduria

(OADC deficiency;)

Synonym(s)
- Oxoadipate dehydrogenase complex deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- DHTKD1 / Dehydrogenase E1 And Transketolase Domain Containing 1
  10p14
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Dehydrogenase E1 and transketolase domain-containing protein 1
Multimer
- 2-Oxoadipate dehydrogenase complex
Pathway
- Lysine, hydroxylysine, and tryptophan metabolism
Disease group(s)
- 1.8 Disorders of lysine, hydroxylysine, and tryptophan metabolism
Child entries
- Charcot-Marie-Tooth disease type 2Q (unconfirmed)