Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.
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.
Bachrach
Bert E
BE
Children's Hospital Dartmouth and Dartmouth Medical School, Manchester, New Hampshire.
Weinstein
David A
DA
Orho-Melander
Marju
M
Burgess
Anne
A
Wolfsdorf
Joseph I
JI
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
D006006:Glycogen Synthase