Skip to Content

maple syrup urine disease

 

Definition: an inborn error of metabolism caused by defective oxidative decarboxylation of a-keto acids of leucine, isoleucine, and valine; these branched-chain amino acids are present in the blood and urine in high concentrations; manifestations of disease include feeding difficulties, physical and mental retardation, and a urine odor similar to that of maple syrup; neonatal death is common. Autosomal recessive inheritance, caused by mutation in the E1, E2 or E3 subunit of the branched-chain a-keto acid dehydrogenase gene (BCKDH) on 19q. There are various forms differentiated by the subunit of BCKDH mutated.

Synonym(s): branched chain ketoaciduria, branched chain ketonuria, ketoacidemia

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.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide