Glycogen storage disease I
MONDO:0002413Glycogenosis 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, GSD due to G6P deficiency, GSD type 1, GSD type I, GSD1, Glycogen Storage Disease Type I, glycogen storage disease I, glycogen storage disease due to G6P deficiency
13 clinical trials for this condition and its sub-types.
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Broader categories
Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Disorder of glycogen metabolism
(14)
Human disease
(14)
Carbohydrate metabolism disease
(3)
Disease of genetic or genomic mechanism
(2)
Inborn carbohydrate metabolic disorder
(2)
Inborn disorder of energy metabolism
(1)