The variable clinical phenotype of liver glycogen synthase deficiency

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Abstract

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.

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Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Endocrinology and Diabetes

Keywords

  • autosomal recessive, glycogen storage disease, glycogen synthase, missense mutation, hypoglycemia, hyperglycemia
Original languageEnglish
Pages (from-to)1339-1342
JournalJournal of Pediatric Endocrinology & Metabolism
Volume20
Issue number12
Publication statusPublished - 2007
Publication categoryResearch
Peer-reviewedYes