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
Turkish Journal of Pediatrics, cilt.60, sa.5, ss.581-583, 2018 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 60 Sayı: 5
- Basım Tarihi: 2018
- Doi Numarası: 10.24953/turkjped.2018.05.018
- Dergi Adı: Turkish Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.581-583
- Anahtar Kelimeler: ketotic hypoglycemia, glycogen storage disease type 0, glycogen synthase 2 gene
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.