glycogen storage disease IXb

A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation

A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12.

Signs and symptoms

• Hepatomegaly
• Hypoglycemia
• Diarrhea
• Reduced hepatic phosphorylase kinase activity
• Reduced tissue phosphorylase kinase activity
• Increased muscle glycogen content
• Increased hepatic glycogen content
• Growth delay
• Short stature
• Muscle weakness

Also known as: GSD IXb; GSD due to liver and muscle phosphorylase kinase deficiency; GSD type 9B; GSD type IXb; GSD9B