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The variable clinical phenotype of liver glycogen synthase deficiency

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Author

Summary, in English

We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene confirmed the diagnosis. GSDO is more common than previously assumed. Recognition of the variable phenotype spectrum of GSDO and routine analysis of GYS2 are essential for the correct diagnosis.

Publishing year

2007

Language

English

Pages

1339-1342

Publication/Series

Journal of Pediatric Endocrinology & Metabolism

Volume

20

Issue

12

Document type

Journal article

Publisher

Freund Publishing House Ltd

Topic

  • Endocrinology and Diabetes

Keywords

  • autosomal recessive
  • glycogen storage disease
  • glycogen synthase
  • missense mutation
  • hypoglycemia
  • hyperglycemia

Status

Published

Research group

  • Genomics, Diabetes and Endocrinology

ISBN/ISSN/Other

  • ISSN: 2191-0251