Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.

ABSTRACT:

Background

Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a rare urea cycle disorder caused by mutations in the SLC25A15 gene, leading to metabolic and neurological impairments. Liver transplantation (LT) may restore urea cycle function and prevent disease progression.

Methods

This retrospective study analyzed six patients with HHH syndrome who underwent LT between 2016 and 2022. Pre- and post-transplant evaluations included biochemical tests, genetic analysis, neurological assessments, and quality-of-life measures.

Results

LT successfully normalized metabolic parameters (ammonia and amino acid levels) and allowed patients to resume normal diets. Early transplantation resulted in neurological improvement in 5 of 6 patients (83.3%), including redu

SUBMITTER: Ju H 

PROVIDER: S-EPMC12542414 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature