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

BE Bachrach, DA Weinstein, Marju Orho-Melander, A Burgess, JI Wolfsdorf

Research output: Contribution to journalArticlepeer-review

30 Citations (SciVal)

Abstract

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.
Original languageEnglish
Pages (from-to)781-783
JournalJournal of Pediatrics
Volume140
Issue number6
DOIs
Publication statusPublished - 2002

Subject classification (UKÄ)

  • Endocrinology and Diabetes

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