Outcome of Living Donor Liver Transplantation for Glycogen Storage Disease P.-P. Liu, V.H. de Villa, Y.-S. Chen, C.-C. Wang, S.-H. Wang, Y.-C. Chiang, B. Jawan, H.-K. Cheung, Y.-F. Cheng, T.-L. Huang, H.-L. Eng, F.-R. Chuang, and C.-L. Chen G LYCOGEN storage diseases (GSD) are inherited disorders in which the amount and/or structure of glycogen in body tissues are abnormal. 1,2 GSD I (von Gierke disease) is caused by a deficiency of glucose 6-phos- phatase activity in the liver, kidney, and intestinal mucosa with glycogen overloading in these organs. The clinical manifestations are seizures, systemic acidosis, hyperlipid- emia, hyperuricemia, and growth retardation. Without ef- fective treatment, long-term complications occur, including gout, osteoporosis, short stature, and hepatic adenomas. 3–5 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, hyperlipid- emia, and growth retardation are the main manifestations in children; while liver cirrhosis and /or hepatocellular carcinoma may occur later. 6,7 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 adminis- tered uncooked cornstarch is effective. 2,8 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 high- protein diet, and frequent high carbohydrate meals for patients with hypoglycemia. Nocturnal gastric feeding or cornstarch supplements comprise effective therapy. How- ever, some patients with GSD do not respond to diet therapy and may need frequent intravenous glucose infu- sions and even parenteral nutrition to maintain metabolic homeostasis. Liver transplantation (LT) is considered to correct the metabolic defects and the deleterious complica- tions 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. 9,10 We present five cases of GSD (four GSD Ia; one GSD III), which were treated by living donor liver trans- plantation (LDLT) in our institution. These patients were unresponsive to medical therapy or developed serious com- plications of GSD. In this study we investigate the outcome of these children after LDLT for GSD. PATIENTS AND METHODS From 1996 to 2001, 78 LDLT were performed in our institution, five of which were for GSD. Four had GSD type Ia (three girls and one boy, aged from 4.3 to 14.5 years) and one GSD type III (3.8 year old girl), as diagnosed by enzyme assays. All patients were under metabolic control with frequent daytime feedings and/or nocturnal nasogastric tube feeding, while their clinical conditions did not improve. One patient (LDLT 18) suffered frequent hypo- glycemic convulsions and even coma before transplantation. The GSD III patient had hepatomegaly and impaired liver function, which progressed to cirrhotic change upon biopsy. The surgical procedures were similar for all donors (five mothers) and recipients with some modifications mainly for anatomic variations. All recip- ients received a triple immunosuppressive regimen (cyclosporine- Neoral, corticosteroid, and azathioprine). Blood samples from all the patients were collected for biochemical studies before and regularly after liver transplantation. The surgical specimens were fixed in 10% buffered formaldehyde solution and processed for routine histological analysis. Periodic acid-Schiff stain was per- formed for identification of glycogen deposition. RESULTS The surgical procedures were similar in all patients and the type of donor hepatectomy was decided mainly on the basis of the estimated graft recipient weight ratio (GRWR) above 1% as possible. We performed two left lobectomies, one extended left lateral segmentectomy and two left lateral segmentectomies with minimal blood loss. An adenoma was found in each explanted liver of LDLT18 (2  2  2 cm) and LDLT28 (1  1  1 cm) without malignant transformation. The histological study of liver tissue confirmed the diagnosis of GSD, and showing ballooned hepatocytes with glycogen overloaded. Although the operative courses were generally unre- From the Departments of Surgery and Liver Transplant Pro- gram (P-P.L., V.H.dV., Y-S.C., C-C.W., S-H.W., Y-C.C., B.J., H-K.C., Y-F.C., T-L.H., H-L.E., C.L.C.), Department of Nephrol- ogy (F-R.C), Chang Gung University and Chang Gung Memorial Hospital, Kaohsiung Medical Center, Kaohsiung, Taiwan Address reprint requests to Dr. C. L. Chen, Department of Surgery, Chang Gung Memorial Hospital, 123, Ta-Pei Road, Niao-Sung, Kaohsiung 83305, Taiwan. 0041-1345/03/$–see front matter © 2003 by Elsevier Science Inc. doi:10.1016/S0041-1345(02)03951-9 360 Park Avenue South, New York, NY 10010-1710 366 Transplantation Proceedings, 35, 366 –368 (2003)