glycogen storage disease IXc

A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound

A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11.

Signs and symptoms

• Cirrhosis
• Hepatomegaly
• Growth delay
• Increased hepatic glycogen content
• Elevated circulating hepatic transaminase concentration
• Hypotonia
• Motor delay
• Hypertriglyceridemia
• Reduced hepatic phosphorylase kinase activity
• Increased circulating lactate concentration

Also known as: GSD type 9C; GSD type IXc; GSD9C; glycogen storage disease type 9C; glycogen storage disease type IXc