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Updated: Oct 18, 2026

Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue
Published on: October 24, 2025
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5
1Children's Hospital, Albert-Ludwigs-University, Freiburg, Germany. sey@kkl200.ukl.uni-freiburg.de
Abstract:
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia (GSD Ia) revealed mutations on all 80 alleles and verified the diagnosis in all patients. At least 7 patients were diagnosed with GSD Ia solely on the basis of clinical findings prior to our analysis. Five mutations, Q20R, W50X, G81R, W156L, and G188D have not been reported so far. This study underscores that molecular genetic analysis is a reliable and convenient alternative to the enzyme assay in a fresh liver biopsy specimen to diagnose GSD Ia.
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