Investigation and Management of Glycogen Storage Disease Type VI

Abstract

Glycogen storage disease (GSD) type VI or Hers disease is a rare form of GSD which is caused by hepatic glycogen phosphorylase deficiency encoded by the glycogen phosphorylase L (PYGL) gene and inherited by autosomal recessive inheritance. PYGL gene mutations prevent liver glycogen phosphorylase (LGP) from breaking down glycogen effectively. Hers disease is a clinically and genetically heterogeneous group of disorders characterized by hepatomegaly, hypoglycemia, growth retardation and hyperlipidemia. The diagnosis of hepatic GSDs requires a proper and specific clinical history and examination. Determination of the mutation in the PYGL gene on chromosome number 14 provides a basis for the diagnostic test of this disease. Therapy for this disease needs very careful dietetic management with prospective surveillance for complications. Treatment with corn starch and a high protein diet is recommended in an effort to improve the clinical features of this disease.