Outcome of living donor liver transplantation for glycogen storage disease.

GLYCOGEN storage diseases (GSD) are inherited disorders in which the amount and/or structure of glycogen in body tissues are abnormal. GSD I (von Gierke disease) is caused by a deficiency of glucose 6-phosphatase activity in the liver, kidney, and intestinal mucosa with glycogen overloading in these organs. The clinical manifestations are seizures, systemic acidosis, hyperlipidemia, hyperuricemia, and growth retardation. Without effective treatment, long-term complications occur, including gout, osteoporosis, short stature, and hepatic adenomas. GSD III (Cori disease) is caused by a deficiency of glycogen debranching enzyme activity and characterized with limit dextrin-like glycogen accumulated in both liver and muscle in most patients. Hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation are the main manifestations in children; while liver cirrhosis and /or hepatocellular carcinoma may occur later. Great progress in the management of GSD I and III has been made recently. For patients affected with GSD I, nocturnal nasogastric feeding of glucose or orally administered uncooked cornstarch is effective. With early diagnosis and initiation of treatment, normal growth and development may be expected. Some patients are free of long-term complications. Treatment of GSD III consists of highprotein diet, and frequent high carbohydrate meals for patients with hypoglycemia. Nocturnal gastric feeding or cornstarch supplements comprise effective therapy. However, some patients with GSD do not respond to diet therapy and may need frequent intravenous glucose infusions and even parenteral nutrition to maintain metabolic homeostasis. Liver transplantation (LT) is considered to correct the metabolic defects and the deleterious complications of GSD. LT for GSD I and III was first reported, respectively, by Malatack et al in 198 and by Superina et al in 1989. We present five cases of GSD (four GSD Ia; one GSD III), which were treated by living donor liver transplantation (LDLT) in our institution. These patients were unresponsive to medical therapy or developed serious complications of GSD. In this study we investigate the outcome of these children after LDLT for GSD. PATIENTS AND METHODS