The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 5
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
Bülent Hacıhamdioğlu 1 ,Gamze Özgürhan 2 ,Bahar Çaran 2 ,Evrim Meydan-Aksanlı 2 ,Ece Keskin 3
1 Departments of Pediatric Endocrinology, University of Health Sciences, Suleymaniye Women Maternity and Child Diseases Training and Research Hospital, İstanbul, Turkey
2 Departments of Pediatrics, University of Health Sciences, Suleymaniye Women Maternity and Child Diseases Training and Research Hospital, İstanbul, Turkey
3 Departments of Medical Genetics, University of Health Sciences, Suleymaniye Women Maternity and Child Diseases Training and Research Hospital, İstanbul, Turkey
DOI : 10.24953/turkjped.2018.05.018 Hacıhamdioğlu B, Özgürhan G, Çaran B, Meydan-Aksanlı 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. Keywords : ketotic hypoglycemia, glycogen storage disease type 0, glycogen synthase 2 gene

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