Successful combined liver/kidney transplantation from a donor with Pompe disease.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Halldorson, J; Kazi, Z; Mekeel, K; Kuo, A; Hassanein, T; Loomba, R; Austin, S; Valasek, MA; Kishnani, P; Hemming, AW

Published Date

  • August 2015

Published In

Volume / Issue

  • 115 / 4

Start / End Page

  • 141 - 144

PubMed ID

  • 26031770

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2015.05.007


  • eng

Conference Location

  • United States