2025/01/01 by Raeda Taj, Kim T. Ng, Sanmati Cuddapah +12 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Amino Acid Enzymes and Metabolism #Biomedical Research and Pathophysiology #Neonatal Health and Biochemistry
paper · pdf · doi:10.1002/jmd2.12467
openalex publication_date 2025/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/05/21
Many inherited metabolic disorders (IMD) are associated with end-organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates. We present the first known report of liver transplantation from a deceased donor with cystinosis. The donor was a 20-year-old male with infantile cystinosis who had previously undergone two deceased donor kidney transplants. Unfortunately, he incurred cranial trauma, and after careful consideration of the metabolic consequences, his liver was deemed suitable for transplantation. The liver was successfully transplanted into a 65-year-old female recipient with hepatitis C (HCV) cirrhosis. The recipient is currently 12 months post-transplant and experiencing good graft function without evidence of cystine crystals on liver biopsy. This case highlights that liver transplantation from donors with rare IMD can result in favorable outcomes. However, it is crucial to approach the use of such livers with caution. These transplants should be considered after a thorough assessment, ensuring that a comprehensive decision-making process is in place to mitigate potential risks.