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Article

A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0.

BMC medical genetics - 5 Jan 2010

Soggia Ana Priscila, Correa-Giannella Maria Lúcia, Fortes Maria Angela Henriques, Luna Ana Mercedes Cavaleiro, Pereira Maria Adelaide Albergaria

Abstract excerpt

BACKGROUND: Glycogen storage disease type 0 is an autosomal recessive disease presenting in infancy or early childhood and characterized by ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia and hyperlactatemia. Sixteen different mutations have been identified to date in the gene which encodes hepatic glycogen synthase, resulting in reduction of glycogen storage in the liver. CASE...

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Identifiers

PMID: 20051115
DOI: 10.1186/1471-2350-11-3
PMCID: PMC2837020

Genes

GYS2

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