Glycogen Storage Diseases

Glycogen storage diseases include more than 10 genetic differences involving either enzymes or transporters. They are characterized as storing glycogen in abnormal quantity, location, or structure. Five types of glycogen storage disease have been described ( 53): type I (glucose-6-phosphatase deficiency), type II (acid a-glucoside deficiency), type III (amylo-1,6-glycosidase deficiency), type IV (branching enzyme deficiency), and type V (muscle phosphorylase deficiency), which was later expanded to at least seven types (type Vi, liver phosphorylase or phosphorylase B kinase deficiency; type VII, muscle fructokinase deficiency). For details, consult the review by Hers (54). In types I, III, and VI, the liver cannot convert glycogen into glucose, causing hepatomegaly (enlarged liver), hypoglycemia, hypoinsulinism, hyperglucagonemia, hyperlipidemia, and growth retardation. In types V and VII (but also in type II and a subgroup of type VI), the muscle is affected and cannot provide glycolytic fuel for contraction. Symptoms are often mild, however, and become apparent only when young adulthood is reached and strenuous exercise is taken.

In a number of the glycogen storage diseases liver transplantation is the only "curative" treatment.

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