Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

Özet

Glycogen storage disease type 0 (GSD0) has been considered a rare disorder,it is characterized with ketotic hypoglycemia after prolonged fasting andpostprandial hyperglycemia. Herein, we report a novel mutation in the glycogensynthase 2 gene in a Turkish child, as well as her clinical characteristics and12-month follow-up. We evaluated a 5-year-old girl for asymptomatic fastingketotic hypoglycemia with postprandial hyperglycemia diagnosed with glycogenstorage disease type 0. We identified a novel frameshift mutation, c.1081delA(p.Thr361Glnfs*2) in exon 8 on glycogen synthase 2 gene. Children withGSD0 may have a mild phenotype and GSD0 may be underdiagnosed dueto subclinical or asymptomatic hypoglycemia. The diagnosis of GSD0 shouldbe considered in a child with ketotic fasting hypoglycemia with postprandialhyperglycemia but without hepatomegaly.