A novel mutation in a newborn baby leading to glycogen storage disease type Ia

Balkan journal of medical genetics: BJMG

O Gorukmez^2¹  S Dorum^1² 

[1] Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey^2;Department of Pediatrics, Division of Metabolism, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey^1

关键词: Glycogen storage disease type Ia (GSD1A);    Novel mutation;    von Gierke disease;   

DOI  :  10.2478/bjmg-2018-0018

学科分类：生物科学（综合）

来源: Makedonska Akademija na Naukite i Umetnostite

【 摘 要 】

Glycogen storage disease type Ia (GSD1A) is caused by mutations in the G6PC gene. The G6PC gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the G6PC gene, we identified a novel homozygous variation (c.137T>G/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T>G/p.Leu46Arg in the G6PC gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.

【 授权许可】

Unknown