Argininosuccinic aciduria

Get in touch with RARE Concierge.

Contact RARE Concierge

Argininosuccinic aciduria

Synonyms: ASA deficiency | ASL deficiency | Argininosuccinase deficiency | Argininosuccinatelyase deficiency | Argininosuccinic acid lyase deficiency

A rare genetic disorder of urea cycle metabolism typically characterized by either a severe neonatal-onset form that manifests with hyperammonemia accompanied with vomiting hypothermia lethargy and poor feeding in the first few days of life or late-onset forms that manifest with stress- or infection-induced episodic hyperammonemia or in some behavioral abnormalities and/or learning disabilities or chronic liver disease. Patients often manifest liver dysfunction.

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 December 2023

Newly diagnosed with
Argininosuccinic aciduria?

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

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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