Carbamoyl phosphate synthetase 1 deficiency

(CPS1 deficiency)

Type

Disease
External link(s)
Gene
- CPS1 / Carbamoyl Phosphate Synthetase 1
  2q34
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Carbamoyl phosphate synthetase I
Pathway
- Urea Cycle
Disease group(s)
- 1.1 Urea cycle disorders and inherited hyperammonemias