Argininosuccinic aciduria

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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 July 2024

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Argininosuccinic aciduria?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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.

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Clinical Trials

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