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

• DOI: 10.1111/petr.70067
• Publication Date: 2025-03-13T06:59:11Z
• Authors: Hazel Delal Dara Kar; Halil İbrahim Aydın; Figen Özçay; Oya Balcı Sezer; Esra Baskın; Feride Şahin; Yunus Kasım Terzi; Emre Karakaya; Mehmet Haberal
• Keywords: Tyrosinemia; Primary hyperoxaluria

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 IEMs has increased, making the second most common reason pediatric after biliary atresia. Patients Methods Between 2001 2023, 50 patients with underwent at Başkent University, Ankara Hospital. Data collected retrospectively included diagnosis, gender, age LT, indication, donor data, graft type, rejection episodes, post‐transplant complications, clinical findings before LT. Treatment methods, follow‐up duration, survival time were also recorded. Results Of 332 patients, (15.1%) had IEMs, three requiring re‐transplantations. Diagnoses glycogen storage ( n = 11), tyrosinemia type 1 10), primary hyperoxaluria 6), urea cycle disorders homozygous familial hypercholesterolemia 4), propionic acidemia deoxyguanosine kinase deficiency 3), maple syrup urine disease 2), methylmalonic 1), Niemann‐Pick B alkaptonuria unknown neonatal cholestasis bile acid synthesis disorder 1). The parental consanguinity rate was 74%. Living‐related donors provided organs 48 (90.5%) patients. mean 75.3 ± 8.2 months (range: 5–218), a period 82.1 10.2 (range:1 day–229 months). Survival rates 1, 5, 10, 15 years 83.7%, 81%, 70.9%, respectively. Conclusion is an solution children IEM chronic organ failure difficult to manage medical treatment, showing good long‐term prognosis.