Carbonic anhydrase VA deficiency

(CA5A deficiency)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CA5A / Carbonic Anhydrase 5A
  16q24.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Carbonic anhydrase VA, mitochondrial
Pathway
- Urea Cycle
Disease group(s)
- 1.1 Urea cycle disorders and inherited hyperammonemias