glycogen storage disease VI

A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.

Signs and symptoms

• Hepatomegaly
• Elevated circulating hepatic transaminase concentration
• Increased hepatic glycogen content
• Hypertriglyceridemia
• Failure to thrive in infancy
• Hypercholesterolemia
• Hyperlipidemia
• Hypoglycemia
• Postnatal growth retardation
• Reduced hepatic glycogen phosphorylase activity

Also known as: Glycogen storage disease 6; Hers' disease; glycogen storage disease type VI; hepatic glycogen phosphorylase deficiency; hepatophosphorylase deficiency glycogenosis