Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

DOI
Publisher DOI
PubMed ID
21667091
Abstract
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 the activity of the enzyme.
Date Issued
2012
Publication Type
Article
Language(s)
en
Author(s)
Engel, Katharina
Vuissoz, Jean-Marc
Eggimann, Sandra
Berning, Christoph
Hu, Liyan
Klaus, Vera
Moeslinger, Dorothea
Mercimek-Mahmutoglu, Saadet
Stöckler, Sylvia
Wermuth, Bendicht
Häberle, Johannes
Additional Credits
Journal
Journal of inherited metabolic disease
Publisher
Springer Netherlands
ISSN
0141-8955
Access(Rights)
Unknown
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