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Glycogen storage disease IXb
rareA disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation.
- Identifiers
- MONDO:0009868 OMIM:261750Orphanet:79240
- Causal genes
- PHKB
- Part of
- Glycogen storage disease IX
- Also known as
- glycogen storage disease 9B · glycogen storage disease caused by mutation in PHKB · glycogen storage disease type 9B · glycogen storage disease type IXb · glycogenosis due to liver and muscle phosphorylase kinase deficiency
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