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Glycogen storage disease IXa1
rareAny 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.
- Identifiers
- MONDO:0010598 OMIM:306000
- Causal genes
- PHKA2
- Part of
- Glycogen storage disease IXGlycogen storage disease due to liver phosphorylase kinase deficiency
- Also known as
- glycogen storage disease 8 · glycogen storage disease caused by mutation in PHKA2 · glycogen storage disease type 9A · glycogen storage disease type IXa · glycogen storage disease type VIII
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