glycogen storage disease IXa

Term ID

DOID:0111042

Synonyms

• glycogen storage disease type 9A
• glycogen storage disease type IXa
• glycogenosis type 9A
• glycogenosis type IXa
• GSD type 9A
• GSD type IXa
• GSD9A

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. (2)

References

• ICD10CM:E74.0
• OMIM:306000

Ontology

Human Disease   ( DOID:0111042 )