glycogen storage disease IXa1

A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually

A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.

Signs and symptoms

• Hepatomegaly
• Hypoglycemia
• Hypertriglyceridemia
• Hypercholesterolemia
• Reduced hepatic phosphorylase kinase activity
• Reduced tissue phosphorylase kinase activity
• Growth delay
• Elevated circulating hepatic transaminase concentration
• Ketosis
• Lactic acidosis

Also known as: GSD type 9A; GSD type IXa; GSD9A; glycogen storage disease IXa; glycogen storage disease IXa2