Reference Work Entry

Encyclopedia of Molecular Mechanisms of Disease

pp 729-730

Glycogen Synthase Deficiency

  • Catherine E. CorreiaAffiliated withInstitute of Physiology, University of TuebingenDivision of Endocrinology, Children’s Hospital Boston and Harvard Medical School
  • , David A. WeinsteinAffiliated withInstitute of Physiology, University of TuebingenDivision of Endocrinology, Children’s Hospital Boston and Harvard Medical School
  • , Joseph I. WolfsdorfAffiliated withDivision of Pediatric Endocrinology, University of Florida College of Medicine

Synonyms

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.

Prevalence

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.

Genes

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 been found in patients with GSD0. The gene has 1 ...

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