Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998248 | Molecular Genetics and Metabolism | 2015 | 4 Pages |
Abstract
Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. This case demonstrates co-operative transplant surgery and genetic medicine evaluation and risk estimation for donors with inherited metabolic disorders some of which may be suitable for donation of selected organs for transplantation.
Keywords
INRAcid alpha glucosidaseGAALOPDALTAlanine aminotransferaseALPAlkaline phosphataseLate-onset Pompe diseaseGlycogen storage diseasePompe diseaseIntravenousCNScentral nervous systemCause of deathInternational Normalized RatioGlycogen storage disease type IILiver transplantationKidney transplantationCod
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Authors
J. Halldorson, Z. Kazi, K. Mekeel, A. Kuo, T. Hassanein, R. Loomba, S. Austin, M.A. Valasek, P. Kishnani, A.W. Hemming,