The glycogen storage diseases and related disorders

Abstract

The liver GSDs comprise GSD I, the hepatic presentations of GSD III, GSD IV, GSD VI, the liver forms of GSD IX, and GSD 0. GSD I, -III, -VI, and -IX present with hypoglycaemia, marked hepatomegaly, and retarded growth [6]. GSD I is the most severe of these four conditions, because both glycogenolysis and gluconeogenesis are impaired. Patients with GSD III have a syndrome that includes hepatopathy, myopathy and often cardiomyopathy. Unlike the other hepatic forms of GSD, GSD IV usually manifests in infancy or childhood as hepatic failure with cirrhosis leading to end-stage liver disease. GSD VI and the hepatic forms of GSD IX are classically the mildest forms, but there is recent evidence that optimised therapy decreases the rate of liver pathology and improves growth.