Citrullinemia type I

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: ASS deficiency | Argininosuccinate synthase deficiency | Argininosuccinate synthetase deficiency | Argininosuccinic acid synthase deficiency | Argininosuccinic acid synthetase deficiency | CTLN1 | Citrullinemia type 1 | Classic citrullinemia

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I see this term).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

Newly diagnosed with
Citrullinemia type I?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

flok Health (formerly National PKU News)

National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.