Liver Transplantation for Type IV Glycogen Storage Disease

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Abstract
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as well as in cultured skin fibroblasts and other tissues.2 , 3 This branching enzyme is responsible for creating branch points in the normal glycogen molecule. In the relative or absolute absence of this enzyme, an insoluble and irritating form of glycogen, an amylopectin-like polysaccharide that resembles plant starch, accumulates in the cells. The amylopectin-like form is less soluble than normal glycogen, with longer outer and inner chains and fewer branch points. The clinical onset of the disease is insidious, with nonspecific gastrointestinal symptoms at first, followed by progressive hepatosplenomegaly, portal hypertension, ascites, and hepatic failure. Children with this disorder usually die of hepatic cirrhosis by the age of two to four years.4 5 6 7 8 In exceptional cases, cardiomyopathy,5 6 7 , 9 neurologic syndromes — including tremors, seizures, and dementia10 , 11 — or variable manifestations of myopathy5 , 12 , 13 have been reported. In patients with these unusual symptoms, the clinical onset is frequently later than in typical cases, and death most often results from cardiac failure.