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Glycogen storage disease IX
rareA group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.
- Identifiers
- MONDO:0700291 Orphanet:370
- Part of
- Disorder of glycogen metabolism
- Also known as
- glycogen storage disease 9 · glycogen storage disease type 9 · glycogen storage disease type IX · glycogenosis due to phosphorylase kinase deficiency · glycogenosis type 9
Subtypes
Rare disease
Projects
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