Contributor: Gordon K. Klintworth
Glycogenosis type IV (Andersen disease, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, glycogen branching enzyme deficiency, glycogen storage disease type IV ) is a rare inherited disorder with an autosomal recessive mode of inheritance. This condition is one of numerous types of glycogen storage disease. It can result from several mutations in the in the GBE1 gene, which result in a defective glycogen brancher enzyme. Liver disease is prominent and is characterized by an early development of cirrhosis with portal hypertension [hypertension - portal] and severe liver failure. Cardiomyopathy, neurologic syndromes and myopathy have been reported. Ophthalmic manifestations have not been described. The condition is fatal by 2-4 years of age. Liver transplantion has been performed on a few cases and this has prolonged patient survival. Parents should receive genetic counselling.