/glycogen storage disease I

glycogen storage disease I

Rare Disease

MONDO:0002413

Also Known As

G6P deficiencyGSD due to G6P deficiencyGSD type 1GSD type IGSD1Glycogen Storage Disease Type Ideficiency of glucose-6-phosphataseglycogen storage disease Iglycogen storage disease due to G6P deficiencyglycogen storage disease due to glucose-6-phosphatase deficiencyglycogen storage disease type 1glycogen storage disease type Iglycogen storage disease, type Iglycogenosis type 1glycogenosis type Ihepatorenal glycogenosisvon Gierke diseasevon Gierke's disease

Definition

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.