Glycogen storage disease type I
Glycogen storage disease type I
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.
Also known as G6P deficiency, glycogen storage disease due to G6P deficiency, glycogen storage disease due to glucose-6-phosphatase deficiency, glycogen storage disease I, glycogen storage disease type 1, Glycogen Storage Disease Type I, glycogen storage disease, type I, glycogenosis type 1, glycogenosis type I, GSD due to G6P deficiency, GSD type 1, GSD type I, GSD1, hepatorenal glycogenosis, von Gierke disease, von Gierke's disease — per MONDO