Biomedical and Life Sciences > Encyclopedia of Molecular Mechanisms of Disease > Glycogen Synthase Deficiency
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Glycogen Synthase Deficiency
Hepatic glycogen synthase deficiency; Glycogen storage disease type 0; GSD0
Definition and Characteristics
The prevalence of GSD0 is unknown, but it is almost certainly under-diagnosed. To date, 20 cases have been reported from North America, South America, and Europe.
Seventeen mutations, shown in Fig. 1, have been identified in the GYS2 gene located on chromosome 12p12.2. Of the 16 mutations, the only common mutation is in Exon 5 (R246X), which has been found in patients of Italian descent [1,2,3].
Glycogen Synthase Deficiency. Figure 1 Schematic representation of GYS2 gene with mutations that have