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.
Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
Search Stedman's Medical Dictionary
Examples: glitazone, GI cocktail, etc.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.