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Glycogen Synthase Deficiency


Hepatic glycogen synthase deficiency; Glycogen storage disease type 0; GSD0

Definition and Characteristics

Autosomal recessive deficiency of hepatic glycogen synthase. Inability to store hepatic glycogen results in postprandial hyperglycemia, hyperlactatemia, and hyperlipidemia alternating with fasting ketotic hypoglycemia associated with low alanine and lactate concentrations.


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