Glycogen Storage Disease Type I


Deficiencies, Glucose-6-Phosphatase

Deficiencies, Glucosephosphatase

Deficiency, Glucose-6-Phosphatase

Deficiency, Glucosephosphatase

Disease, Gierke

Disease, Gierke's

Disease, von Gierke

Disease, von Gierke's

Gierke Disease

Gierke's Disease

Gierkes Disease

Glucose 6 Phosphatase Deficiency

Glucose-6-Phosphatase Deficiencies

Glucose-6-Phosphatase Deficiency

Glucosephosphatase Deficiencies

Glucosephosphatase Deficiency

Glycogen Storage Disease 1 (GSD I)

Glycogenosis 1

Hepatorenal Glycogen Storage Disease

von Gierke Disease

von Gierke's Disease

von Gierkes Disease

An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.