Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

ABSTRACT:

Background

Newborn screening (NBS) programmes identify a wide range of disease phenotypes, which raises the question whether early identification and treatment is beneficial for all. This study aims to answer this question for primary carnitine deficiency (PCD) taking into account that NBS for PCD identifies newborns with PCD and also until then undiagnosed mothers.

Methods

We investigated clinical, genetic (variants in SLC22A5 gene) and functional (carnitine transport activity in fibroblasts) characteristics of all referred individuals through NBS (newborns and mothers) and clinically diagnosed patients with PCD (not through NBS). Disease phenotype in newborns was predicted using data from PCD mothers and cases published in literature with identical SLC22A5 va

SUBMITTER: Crefcoeur L 

PROVIDER: S-EPMC10715524 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature