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...