A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 |
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| Authors: | Ana Priscila Soggia Maria Lúcia Correa-Giannella Maria Angela Henriques Fortes Ana Mercedes Cavaleiro Luna Maria Adelaide Albergaria Pereira |
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| Affiliation: | 1.Divis?o de Endocrinologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de S?o Paulo,S?o Paulo,Brazil;2.Laboratório de Endocrinologia Celular e Molecular LIM-25, Faculdade de Medicina da Universidade de S?o Paulo,S?o Paulo,Brazil |
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| Abstract: | 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. |
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