title: Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.
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.
authors.affiliation: Children's Hospital Dartmouth and Dartmouth Medical School, Manchester, New Hampshire.
authors.forename: Bert E
authors.initials: BE
authors.lastname: Bachrach
authors.forename: David A
authors.initials: DA
authors.lastname: Weinstein
authors.forename: Marju
authors.initials: M
authors.lastname: Orho-Melander
authors.forename: Anne
authors.initials: A
authors.lastname: Burgess
authors.forename: Joseph I
authors.initials: JI
authors.lastname: Wolfsdorf
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006006:Glycogen Synthase / Q000172:deficiency* / Q000235:genetics*; D006029:Glycosuria / Q000209:etiology*; D006801:Humans; D006943:Hyperglycemia / Q000209:etiology*; D008297:Male; D009154:Mutation
chemical_list: D006006:Glycogen Synthase