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. 2025 May;29(3):e70067.
doi: 10.1111/petr.70067.

Short and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study

Hazel Delal Dara Kar  1 , Halil İbrahim Aydın  2 , Figen Özçay  3 , Oya Balcı Sezer  3 , Esra Baskın  4 , Feride Şahin  5 , Yunus Kasım Terzi  5 , Emre Karakaya  6 , Mehmet Haberal  6
Affiliations

Short and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study

Hazel Delal Dara Kar et al. Pediatr Transplant. 2025 May.

Abstract

Background: Inborn errors of metabolism (IEMs) are inherited diseases causing significant morbidity and mortality, particularly in childhood. Liver transplantation (LT) can be curative or partially effective for these diseases. LT for IEMs has increased, making IEMs the second most common reason for pediatric LT after biliary atresia.

Patients and methods: Between 2001 and 2023, 50 pediatric patients with IEMs underwent LT at Başkent University, Ankara Hospital. Data collected retrospectively included diagnosis, gender, age of diagnosis, age of LT, LT indication, donor data, graft type, rejection episodes, post-transplant complications, and clinical findings of the IEMs before and after LT. Treatment methods, follow-up duration, and survival time were also recorded.

Results: Of the 332 pediatric LT patients, 50 (15.1%) had IEMs, with three requiring re-transplantations. Diagnoses included glycogen storage diseases (n = 11), tyrosinemia type 1 (n = 10), primary hyperoxaluria (n = 6), urea cycle disorders (n = 6), homozygous familial hypercholesterolemia (n = 4), propionic acidemia (n = 4), deoxyguanosine kinase deficiency (n = 3), maple syrup urine disease (n = 2), methylmalonic acidemia (n = 1), Niemann-Pick disease type B (n = 1), alkaptonuria with unknown neonatal cholestasis (n = 1), and bile acid synthesis disorder (n = 1). The parental consanguinity rate was 74%. Living-related donors provided organs for 48 (90.5%) patients. The mean age at LT was 75.3 ± 8.2 months (range: 5-218), with a follow-up period of 82.1 ± 10.2 months (range:1 day-229 months). Survival rates at 1, 5, 10, and 15 years were 83.7%, 81%, 81%, and 70.9%, respectively.

Conclusion: LT is an effective solution for children with IEM causing chronic organ failure and difficult to manage with medical treatment, showing a good long-term prognosis.

Keywords: inborn errors of metabolism; liver transplantation; pediatric; renal transplantation.

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References

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