Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.

ABSTRACT:

Objective

The implementation of newborn screening (NBS) programs for citrullinemia type 1 (CTLN1) and argininosuccinic aciduria (ASA) is subject to controversial debate. The aim of this study was to assess the impact of NBS on the metabolic disease course and clinical outcome of affected individuals.

Methods

In 115 individuals with CTLN1 and ASA, we compared the severity of the initial hyperammonemic episode (HAE) and the frequency of (subsequent) HAEs with the mode of diagnosis. Based on a recently established functional disease prediction model, individuals were stratified according to their predicted severe or attenuated phenotype.

Results

Individuals with predicted attenuated forms of CTLN1 and ASA were overrepresented in the NBS group, while those with a predicte

SUBMITTER: Posset R 

PROVIDER: S-EPMC8315358 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature