Human genes for glycogen storage disease I
Glycogen storage disease I [DOID:2749]
A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.
Synonyms: glycogen storage disease I, DOID:2749, glycogen storage disease Is, deficiency of glucose-6-phosphatase, glycogenosis type I ...