Definition: A disorder of the urea cycle resulting from a deficiency of argininosuccinate lyase; characterized by physical and mental retardation, epilepsy, ataxia, liver disease, friable, tufted hair, and excessive urinary excretion of argininosuccinic acid. Autosomal recessive inheritance, caused by mutation in argininosuccinate lyase gene (ASL) on chromosome 7q.
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.
Search Stedman's Medical Dictionary
Examples: glitazone, GI cocktail, etc.