Brief Report: Liver Transplantation for Type IV Glycogen Storage Disease

All had progressive liver failure with massive hepatomegaly, splenomegaly, and ascites. (Because patients with Type IV glycogen storage disease but without progressive liver disease have occasionally been reported,16 progressive liver disease was a condition for transplantation in each case.) Two of the seven patients died 7 and 36 days after liver transplantation -- from a bowel perforation and thrombosis of the hepatic artery, respectively. The phosphorylase-coupled assay measured the rate of formation of inorganic phosphate from glucose-1-phosphate as glucose was polymerized to glycogen by the tissue homogenates.3, 6, 15 The branching-enzyme activity in skin fibroblasts averaged 0.08 μmol of inorganic phosphate per minute per milligram of protein, which was less than 10 percent of the activity in normal subjects (Table 1). More important, none of the surviving patients has had cardiac complications during follow-up periods as long as six years. Because a wide variety of cardiac and noncardiac tissues collected perioperatively from different patients contained cytoplasmic amylopectin, it must be assumed that all the patients had cardiac involvement, as was demonstrated in the four patients studied. Both these immunosuppressive drugs attach to cytosolic binding sites that are rich in the ubiquitous enzyme peptidyl-prolyl isomerase,25, 26 and both cause wide-ranging immunologic and non-immunologic effects, including alterations in carbohydrate, cholesterol, and uric acid metabolism.23 Thus, it is conceivable that the early treatment of patients with Type IV glycogen storage disease could obviate the need for transplantation.