Succinic semialdehyde dehydrogenase deficiency

Synonym(s)
- 4-hydroxybutyric aciduria
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ALDH5A1 / Aldehyde Dehydrogenase 5 Family Member A1
  6p22.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aldehyde dehydrogenase 5 family member A1, mitochondrial
Disease group(s)
- 23.2 Gamma-aminobutyric acid neurotransmitter disorders