Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Dec;28(8):e14886.
doi: 10.1111/petr.14886.

The Impact of Early Indication of Living Donor Liver Transplantation on the Outcomes of Patients With Propionic Acidemia: A Single-Center Experience

Toshimasa Nakao  1 , Seisuke Sakamoto  1 , Seiichi Shimizu  1 , Akinari Fukuda  1 , Hajime Uchida  1 , Yusuke Yanagi  1 , Ryuji Komine  1 , Tasuku Kodama  1 , Aoi Ninomiya  1 , Masaki Yamada  2 , Hiroshi Ono  3 , Shunsuke Nosaka  4 , Reiko Horikawa  5 , Mureo Kasahara  1
Affiliations

The Impact of Early Indication of Living Donor Liver Transplantation on the Outcomes of Patients With Propionic Acidemia: A Single-Center Experience

Toshimasa Nakao et al. Pediatr Transplant. 2024 Dec.

Abstract

Background: Liver transplantation has been indicated for propionic acidemia (PA) patients with frequent metabolic decompensation and performed as an enzyme replacement therapy. We retrospectively evaluated the outcomes of patients with PA and analyze the appropriate timing of living donor liver transplantation (LDLT).

Methods: We reviewed 12 children with PA who underwent LDLT, who were divided into early (period from the first episode of metabolic decompensation to LDLT < 1 year; n = 6) and late (> 1 year; n = 6) indication groups depending on the timing of LDLT.

Results: The patient and graft survival rates were 100% in 12 children with PA, and the median observation period was 61 months (5-193 months). None of the patients experienced any episodes of metabolic decompensation after LDLT. The timing of LDLT did not influence the incidence of surgical complications. Two patients in the late indication group had episodes of cardiac arrest and long QT syndrome before LDLT, and one patient showed prolongation of QT interval after LDLT. Two of the six patients in the late indication group had findings of metabolic stroke of the brain on MRI before LDLT. Although LDLT improved the findings of metabolic stroke, a decrease in development quotient score was shown in the post-LDLT course.

Conclusions: LDLT may be an effective therapeutic option for improving metabolic control. Early LDLT might be help prevent cardiomyopathy and neurological impairment.

Keywords: living donor liver transplantation (LDLT); propionic acidemia; the appropriate timing of LDLT.

PubMed Disclaimer

References

    1. P. Wongkittichote, N. Ah Mew, and K. A. Chapman, “Propionyl‐CoA Carboxylase–A Review,” Molecular Genetics and Metabolism 122, no. 4 (2017): 145–152.
    1. L. Pena, J. Franks, K. A. Chapman, et al., “Natural History of Propionic Acidemia,” Molecular Genetics and Metabolism 105, no. 1 (2012): 5–9.
    1. G. Tajima, R. Kagawa, F. Sakura, et al., “Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients With Mild Disease Caused by a Common PCCB Variant,” International Journal of Neonatal Screening 7, no. 3 (2021): 35.
    1. K. A. Chapman, G. Gramer, S. Viall, and M. L. Summar, “Incidence of Maple Syrup Urine Disease, Propionic Acidemia, and Methylmalonic Aciduria From Newborn Screening Data,” Molecular Genetics and Metabolism Reports 15 (2018): 106–109.
    1. T. Yorifuji, M. Kawai, J. Muroi, et al., “Unexpectedly High Prevalence of the Mild Form of Propionic Acidemia in Japan: Presence of a Common Mutation and Possible Clinical Implications,” Human Genetics 111, no. 2 (2002): 161–165.