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
The diagnosis of GSD0 shouldbe considered in a child with ketotic fasting hypoglycemia with postprandialhyperglycemia but without hepatomegaly.
📌 3 Key Takeaways
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Objective & Hypothesis:Glycogen storage disease type 0 (GSD0) has been considered a rare disorder,it is characterized with ketotic hypoglycemia after prolonged fasting andpostprandial hyperglycemia.
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Key Findings & Data: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.
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Conclusion & Impact:The diagnosis of GSD0 shouldbe considered in a child with ketotic fasting hypoglycemia with postprandialhyperglycemia but without hepatomegaly.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
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.
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Cite This Article
HACIHAMDİOĞLU, B., ÖZGÜRHAN, G., ÇARAN, B., AKSANLI, E. M., KESKİN, E. (2018). 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 - Sayı: 5, 581–583. https://ajindex.com/articles/412132
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