glycogen storage disease IXa (DOID:0111042)
Alliance: disease page
Synonyms: glycogen storage disease type 9A; glycogen storage disease type IXa; glycogenosis type 9A; glycogenosis type IXa; GSD9A; GSD type 9A; GSD type IXa
Alt IDs: OMIM:306000, ICD10CM:E74.0
Definition: A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.