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Glycogen storage disease IXd
rareA benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.
- Identifiers
- MONDO:0010362 OMIM:300559Orphanet:715
- Causal genes
- PHKA1
- Part of
- Disorder of glycogen metabolism
- Also known as
- glycogen storage disease caused by mutation in PHKA1 · glycogen storage disease due to muscle phosphorylase kinase deficiency · glycogen storage disease type 9D · glycogen storage disease type IXd · glycogen storage disease, type IXd
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