Citrullinemia type 1

(ASS1 deficiency)

Synonym(s)
- Argininosuccinate synthetase deficiency
Type

Disease
External link(s)
Gene
- ASS1 / Argininosuccinate Synthase 1
  9q34.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Argininosuccinate synthase
Pathway
- Urea Cycle
Disease group(s)
- 1.1 Urea cycle disorders and inherited hyperammonemias
Child entries
- Citrullinemia type 1, late onset