Methylmalonate semialdehyde dehydrogenase deficiency

(ALDH6A1 deficiency)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ALDH6A1 / Aldehyde Dehydrogenase 6 Family Member A1
  14q24.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Aldehyde dehydrogenase, mitochondrial
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.2 Organic acidurias