Article
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Journal of inherited metabolic disease - 1 Jan 2012
Engel Katharina, Vuissoz Jean-Marc, Eggimann Sandra, Groux Murielle, Berning Christoph, Hu Liyan, Klaus Vera, Moeslinger Dorothea, Mercimek-Mahmutoglu Saadet, Stöckler Sylvia, Wermuth Bendicht, Häberle Johannes, Nuoffer Jean-Marc
Abstract excerpt
BACKGROUND: The urea cycle defect argininosuccinate lyase (ASL) deficiency has a large spectrum of presentations from highly severe to asymptomatic. Enzyme activity assays in red blood cells or fibroblasts, although diagnostic of the deficiency, fail to discriminate between severe, mild or asymptomatic cases. Mutation/phenotype correlation studies are needed to characterize the effects of individual mutations on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.