Argininosuccinic aciduria

Overview

How common is argininosuccinic aciduria?

Argininosuccinic aciduria is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and how common they are in the world is often unclear or unknown. In the United States and Europe, estimates for the frequency of argininosuccinic aciduria range from 1 in 70,000 to 1 in 218,000 births. Argininosuccinic aciduria is classified as a urea cycle disorder. The frequency of these disorders collectively, is about 1 in 30,000 people.

argininosuccinic aciduria. Genetics Home Reference website. Accessed July 1, 2017. https://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria

Argininosuccinic Aciduria. The National Organization for Rare Disorders website. Accessed July 1, 2017. https://rarediseases.org/rare-diseases/argininosuccinic-aciduria

Nagamani SCS, Erez A, Lee B. Argininosuccinate Lyase Deficiency. GeneReviews website. Accessed July 1, 2017. https://www.ncbi.nlm.nih.gov/books/NBK51784/

Haberle J. Argininosuccinic aciduria. OrphaNet website. Accessed July 1, 2017. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=23

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