The variable clinical phenotype of liver glycogen synthase deficiency
Författare
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.
Avdelning/ar
Publiceringsår
2007
Språk
Engelska
Sidor
1339-1342
Publikation/Tidskrift/Serie
Journal of Pediatric Endocrinology & Metabolism
Volym
20
Issue
12
Dokumenttyp
Artikel i tidskrift
Förlag
Freund Publishing House Ltd
Ämne
- Endocrinology and Diabetes
Nyckelord
- autosomal recessive
- glycogen storage disease
- glycogen synthase
- missense mutation
- hypoglycemia
- hyperglycemia
Status
Published
Forskningsgrupp
- Genomics, Diabetes and Endocrinology
ISBN/ISSN/Övrigt
- ISSN: 2191-0251