Antiquitin deficiency

Synonym(s)
- Pyridoxine-dependent epilepsy,
- Alpha-aminoadipic semialdehyde dehydrogenase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ALDH7A1 / Aldehyde Dehydrogenase 7 Family Member A1
  5q23.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aldehyde dehydrogenase 7 family member A1
Disease group(s)
- 1.8 Disorders of lysine, hydroxylysine, and tryptophan metabolism