Contributor: Gordon K. Klintworth
Gycogenosis type VI (glycogen storage disease type VI, Hers disease, OMIM #232700) is an autosomal dominant glycogen storage disease characterized by growth retardation, hepatomegaly and a mild to moderate hypoglycemia with mild ketosis. The disorder is due to a mutation in the PYGL gene. The liver is involved and there is a deficiency in glycogen phosphorylase, but not the heart or sketetal muscle.