TYPE IIIB GLYCOGEN-STORAGE-DISEASE ASSOCIATED WITH END-STAGE CIRRHOSIS AND HEPATOCELLULAR-CARCINOMA

Type III glycogen storage disease (GSD) is a disorder of carbohydrate metabolism caused by a deficiency of debranching enzyme. Different sub types with different clinical pictures have been recognized. During ch ildhood and early adulthood, the symptoms generally regress, and norma l adulthood appears possible in most patients without symptoms or sign s of cirrhosis. We report on an adult patient with GSD who developed e ndstage cirrhosis and a small hepatocellular carcinoma. She had GSD su btype IIIb, i.e., there were no signs of cardiomyopathy, myopathy, or neuropathy. She underwent a successful transplantation, representing t he first case treated this way for this indication to our knowledge, a nd she is doing well after 1 year. Debranching enzyme activity was abs ent both in the liver and in the leukocytes before transplantation. Th e debranching enzyme activity remained absent in the leukocytes after transplantation. We conclude that patients with GSD type III may devel op end-stage cirrhosis and hepatocellular carcinoma and therefore need hepatological follow-up during adulthood.