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Turk J Pediatr ; 60(5): 581-583, 2018.
Article in English | MEDLINE | ID: mdl-30968641

ABSTRACT

Hacihamdioglu B, Özgürhan G, Çaran B, Meydan-Aksanli E, Keskin E. 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. Turk J Pediatr 2018; 60: 581-583. Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia. Herein, we report a novel mutation in the glycogen synthase 2 gene in a Turkish child, as well as her clinical characteristics and 12-month follow-up. We evaluated a 5-year-old girl for asymptomatic fasting ketotic hypoglycemia with postprandial hyperglycemia diagnosed with glycogen storage disease type 0. We identified a novel frameshift mutation, c.1081delA (p.Thr361Glnfs*2) in exon 8 on glycogen synthase 2 gene. Children with GSD0 may have a mild phenotype and GSD0 may be underdiagnosed due to subclinical or asymptomatic hypoglycemia. The diagnosis of GSD0 should be considered in a child with ketotic fasting hypoglycemia with postprandial hyperglycemia but without hepatomegaly.


Subject(s)
Glycogen Storage Disease/genetics , Glycogen Synthase/genetics , Child, Preschool , Female , Frameshift Mutation , Glycogen Storage Disease/diagnosis , Humans , Hyperglycemia/etiology , Hypoglycemia/etiology
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