Argininosuccinic aciduria

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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 http://www.orphadata.org. Data version March 2024

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Argininosuccinic aciduria?

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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.