Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data

Femke Molema, Diego Martinelli, additional individual contributors of MetabERN, Friederike Hörster, Stefan Kölker, Trine Tangeraas, Barbara de Koning, Carlo Dionisi-Vici, Monique Williams*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

17 Citations (Scopus)
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BACKGROUND: This study provides a general overview on liver and/or kidney transplantation in patients with an amino and organic acid-related disorder (AOA) with the aim to investigate patient characteristics and global outcome in Europe. This study was an initiative of the E-IMD and the AOA subnetwork of MetabERN. METHODS: A questionnaire was sent to all clinically active European Society for the Study of Inborn Errors of Metabolism (SSIEM) members. The questionnaire focused on transplanted individuals with methylmalonic acidemia (MMA), propionic acidemia (PA), maple syrup urine disease (MSUD), and urea-cycle disorders (UCDs). RESULTS: We identified 280 transplanted AOA patients (liver transplantation in 20 MMA, 37 PA, 47 MSUD, and 111 UCD patients, kidney or combined liver and kidney transplantation in 57 MMA patients and undefined transplantation type in 8 MMA patients), followed by 51 metabolic centers. At a median follow-up of 3.5 years, posttransplant survival ranged between 78% and 100%, being the lowest in PA patients. Overall, the risk of mortality was highest within 14 days posttransplantation. Neurological complications were mainly reported in Mut0 type MMA (n = 8). Nonneurological complications occurred in MMA (n = 28), PA (n = 7), and UCD (n = 14) patients, while it was virtually absent in MSUD patients. Only 116/280 patients were psychologically tested. In all, except MSUD patients, the intelligence quotient (IQ) remained unchanged in the majority (76/94, 81%). Forty-one percentage (9/22) of MSUD patient showed improved IQ. CONCLUSION: The survival in AOA individuals receiving liver and/or kidney transplantation seems satisfactory. Evidence-based guidelines, systematic data collection, and improved cooperation between transplantation centers and European Reference Networks are indispensable to improve patient care and outcomes.

Original languageEnglish
Pages (from-to)593-605
Number of pages13
JournalJournal of Inherited Metabolic Disease
Issue number3
Early online date30 Sep 2020
Publication statusPublished - 1 May 2021

Bibliographical note

Publisher Copyright:
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.


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