A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia / 대한소아신경학회지

ABSTRACT

Glycogen storage disease(GSD) type Ia is an autosomal recessive disease, caused by the absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa. Glucose-6-phosphatase is an essential enzyme necessary for gluconeogenesis and glycogenolysis. GSD type Ia is characterized by hypoglycemia, lactic acidosis, hepatomegaly, seizures, doll-like faces with fat cheeks, thin extremities, short stature, protuberant abdomen, easy bruising and epistaxis, delayed puberty, early gout, pancreatitis, kidney stone, and other metabolic derangements such as hyperlipidemia. The most important complications of GSD-Ia are focal segmental glomerulosclerosis and hepatic adenomas. Various mutations have been reported. The most common mutation sites are g727t, G122D, and T255I and also P178A and Y128X muations have been reported. We experienced a female patient showing typical clinical characteristics, laboratory findings such as hypoglycemia, hyperuricemia, and hyperlipidemia, and g727t mutation confirmed by DNA analysis. We present this case with a brief review of related articles