Liver transplantation for glycogen storage disease types I, III, and IV

Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver trans plantation. Early diagnosis and initiation of effective dietary therapy hav e dramatically improved the outcome of GSD type I by reducing the incidence of liver adenoma and renal insufficiency. Nine type I and 3 type III patie nts have received liver transplants because of poor metabolic control, mult iple liver adenomas, or progressive liver failure. Metabolic abnormalities were corrected in all GSD type I and type III patients, while catch-up grow th was reported only in two patients. Whether liver transplantation results in reversal and/or prevention of renal disease remains unclear. Neutropeni a persisted in both GSDIb patients post liver transplantation necessitating continuous granulocyte colony stimulating factor treatment. Thirteen GSD t ype IV patients were liver transplanted because of progressive liver cirrho sis and failure. All but one patient have not had neuromuscular or cardiac complications during follow-up periods for as long as 13 years. Four have d ied within a week and 5 years after transplantation. Caution should be take n in selecting GSD type IV candidates for liver transplantation because of the variable phenotype, which may include life-limiting extrahepatic manife stations. It remains to be evaluated, whether a genotype-phenotype correlat ion exists for GSD type IV, which may aid in the decision making. Conclusion Liver transplantation should be considered for patients with gly cogen storage disease who have developed liver malignancy or hepatic failur e, and for type IV patients with the classical and progressive hepatic form .