LIVER-TRANSPLANTATION FOR TYPE-I AND TYPE-IV GLYCOGEN-STORAGE-DISEASE

Progressive liver failure or hepatic complications of the primary dise ase led to orthotopic liver transplantation in eight children with gly cogen storage disease over a 9-year period. One patient had glycogen s torage disease (GSD) type I (von Gierke disease) and seven patients ha d type IV GSD (Andersen disease). As previously reported [19], a 16.5- year-old-girl with GSD type I was successfully treated in 1982 by orth otopic liver transplantation under cyclosporine and steroid immunosupp ression. The metabolic consequences of the disease have been eliminate d, the renal function and size have remained normal, and the patient h as lived a normal young adult life. A late portal venous thrombosis wa s treated successfully with a distal splenorenal shunt. Orthotopic liv er transplantation was performed in seven children with type N GSD who had progressive hepatic failure. Two patients died early from technic al complications. The other five have no evidence of recurrent hepatic amylopectinosis after 1.1-5.8 postoperative years. They have had good physical and intellectual maturation. Amylopectin was found in many e xtrahepatic tissues prior to surgery, but cardiopathy and skeletal myo pathy have not developed after transplantation. Postoperative heart bi opsies from patients showed either minimal amylopectin deposits as lon g as 4.5 years following transplantation or a dramatic reduction in se quential biopsies from one patient who initially had dense myocardial deposits. Serious hepatic derangement is seen most commonly in types I and IV GSD. Liver transplantation cures the hepatic manifestations of both types. The extrahepatic deposition of abnormal glycogen appears not to be problematic in type I disease, and while potentially more th reatening in type IV disease, may actually exhibit signs of regression after hepatic allografting.