Glycogen storage disease IXb
Glycogen storage disease IXb
Definition
A 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.
Also known as glycogen storage disease 9B, glycogen storage disease caused by mutation in PHKB, glycogen storage disease IXb, glycogen storage disease type 9B, glycogen storage disease type IXb, glycogenosis due to liver and muscle phosphorylase kinase deficiency, glycogenosis type 9B, glycogenosis type IXb, GSD due to liver and muscle phosphorylase kinase deficiency, GSD IXb, GSD type 9B, GSD type IXb, GSD9B, PHKB glycogen storage disease, PHKB-related glycogen storage disease type IX — per MONDO