TY - JOUR
T1 - Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations
AU - Bachrach, BE
AU - Weinstein, DA
AU - Orho-Melander, Marju
AU - Burgess, A
AU - Wolfsdorf, JI
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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.
U2 - 10.1067/mpd.2002.124317
DO - 10.1067/mpd.2002.124317
M3 - Article
C2 - 12072888
SN - 1097-6833
VL - 140
SP - 781
EP - 783
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 6
ER -
