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Review
. 1999 Dec;158 Suppl 2(Suppl 2):S43-8.
doi: 10.1007/pl00014320.

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

D Matern  1 , T E Starzl, W Arnaout, J Barnard, J S Bynon, A Dhawan, J Emond, E B Haagsma, G Hug, A Lachaux, G P Smit, Y T Chen
Affiliations
Review

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

D Matern et al. Eur J Pediatr. 1999 Dec.

Abstract

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 transplantation. Early diagnosis and initiation of effective dietary therapy have 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 patients have received liver transplants because of poor metabolic control, multiple liver adenomas, or progressive liver failure. Metabolic abnormalities were corrected in all GSD type I and type III patients, while catch-up growth was reported only in two patients. Whether liver transplantation results in reversal and/or prevention of renal disease remains unclear. Neutropenia persisted in both GSDIb patients post liver transplantation necessitating continuous granulocyte colony stimulating factor treatment. Thirteen GSD type IV patients were liver transplanted because of progressive liver cirrhosis 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 died within a week and 5 years after transplantation. Caution should be taken in selecting GSD type IV candidates for liver transplantation because of the variable phenotype, which may include life-limiting extrahepatic manifestations. It remains to be evaluated, whether a genotype-phenotype correlation exists for GSD type IV, which may aid in the decision making.

Conclusion: Liver transplantation should be considered for patients with glycogen storage disease who have developed liver malignancy or hepatic failure, and for type IV patients with the classical and progressive hepatic form.

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Figures

Fig. 1
Fig. 1. Effect of age at treatment initiation on renal function as expressed by proteinuria
Fig. 2
Fig. 2. Effect of age at treatment initiation on the occurrence of liver adenomas
See this image and copyright information in PMC

References

    1. Alshak NS, Cocjin J, Podesta L, van de Velde R, Makowka L, Rosenthal P, Geller SA. Hepatocellular adenoma in glycogen storage disease type IV. Arch Pathol Lab Med. 1994;118:88–91. - PubMed
    1. Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest. 1996;97:941–948. - PMC - PubMed
    1. Chen YT, Bazarre CH, Lee MM, Sidbury JB, Coleman RA. Type I glycogen storage disease: nine years of management with cornstarch. Eur J Pediatr. 1993;152(Suppl 1):S56–S59. - PubMed
    1. Chen YT, Burchell A. The glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. McGraw-Hill; New York: 1995. pp. 935–965.
    1. Chen YT, Coleman RA, Scheinman JI, Kolbeck PC, Sidbury JB. Renal disease in type I glycogen storage disease. N Engl J Med. 1988;318:7–11. - PubMed

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