Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.

ABSTRACT:

Purpose

Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events. However, there is a paucity of systematic analyses on the effects of LTx on health-related outcome parameters compared to individuals with comparable severity who are medically managed.

Methods

We investigated the effects of LTx and MM on validated health-related outcome parameters, including the metabolic disease course, linear growth, and neurocognitive outcomes. Individuals were stratified into "severe" and "attenuated" categories based on the genotype-specific and validated in vitro enzyme activity.

Results

LTx enabled metabolic stability by prevention of further hyperammonemic event

SUBMITTER: Posset R 

PROVIDER: S-EPMC12812259 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature