Glycogen storage disease IXa1
Glycogen storage disease IXa1
Definition
Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes.
Also known as glycogen storage disease caused by mutation in PHKA2, glycogen storage disease IXa1, glycogen storage disease type 9A, glycogen storage disease type IXa, glycogen storage disease type VIII, glycogen storage disease VIII, glycogen storage disease, type IXa1, X-linked recessive, glycogen storage disease, type IXa2, X-linked recessive, glycogenosis type 9A, glycogenosis type IXa, PHKA2 glycogen storage disease, PHKA2-related glycogen storage disease type IX — per MONDO