Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations
BE Bachrach, DA Weinstein, M Orho-Melander… - The Journal of …, 2002 - Elsevier
BE Bachrach, DA Weinstein, M Orho-Melander, A Burgess, JI Wolfsdorf
The Journal of pediatrics, 2002•ElsevierAlthough 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.(J Pediatr 2002; 140: 781-3)
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.(J Pediatr 2002; 140: 781-3)
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. (J Pediatr 2002;140:781-3)
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