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Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

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Author

Summary, in English

Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.

Publishing year

2002

Language

English

Pages

781-783

Publication/Series

Journal of Pediatrics

Volume

140

Issue

6

Document type

Journal article

Publisher

Academic Press

Topic

  • Endocrinology and Diabetes

Status

Published

Research group

  • Genomics, Diabetes and Endocrinology
  • Diabetes - Cardiovascular Disease

ISBN/ISSN/Other

  • ISSN: 1097-6833