Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

ABSTRACT:

Objective

Ornithine transcarbamylase deficiency (OTC-D) is an X-linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even asymptomatic individuals, the prediction of the disease course at an early disease stage is very important to individually adjust therapies such as medical treatment or liver transplantation. In this translational study, we developed a severity-adjusted classification system based on in vitro residual enzymatic OTC activity.

Methods

Applying a cell-based expression system, residual enzymatic OTC activities of 71 pathogenic OTC variants were spectrophotometrically determined and subsequently correlated with clinical and biochemical

SUBMITTER: Scharre S 

PROVIDER: S-EPMC9639638 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature