/glycogen storage disease IXb

glycogen storage disease IXb

Rare Disease

MONDO:0009868

Also Known As

GSD IXbGSD due to liver and muscle phosphorylase kinase deficiencyGSD type 9BGSD type IXbGSD9BPHKB glycogen storage diseasePHKB-related glycogen storage disease type IXglycogen storage disease 9Bglycogen storage disease IXbglycogen storage disease caused by mutation in PHKBglycogen storage disease type 9Bglycogen storage disease type IXbglycogenosis due to liver and muscle phosphorylase kinase deficiencyglycogenosis type 9Bglycogenosis type IXbglycogen storage disease due to liver and muscle phosphorylase kinase deficiencyglycogenosis of liver and muscle, autosomal recessivephosphorylase kinase deficiency of liver and muscle, autosomal recessive

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.