A case report of glycogen storage disease caused by compound heterozygous variants in the G6PC gene

Abstract

Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive inherited disease resulting from glucose-6-phosphatase catalytic (G6PC) gene mutations. Common symptoms of glycogen storage disease type Ia include growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, and hyperlipidemia, leading to excessive glycogen and fat accumulation in the liver. The present study reported one case of a 24-year-old Vietnamese male hospitalised with complicated manifestations. The patient was examined clinically, and subclinically and predicted to have metabolic syndrome. The karyotype test revealed the usual number of chromosomes of the patient. Whole exome sequencing (WES) analysis identified that the patient harboured compound heterozygous pathogenic variants in the G6PC gene as c.T518C (p.Leu173Pro) and c.G648T (p.Leu216Leu). Therefore, the patient was diagnosed with glycogen storage disease type Ia and applied standard treatment and appropriate nutrition counselling. Among the detected gene variants, the c.G648T (p.Leu216Leu) variant was first detected in Vietnamese patients. This study provided more information to the genetic database of metabolic disorders in the Vietnamese population, effectively contributing to further studies and the accurate diagnosis and treatment of patients.