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Article

MassARRAY-based targeted detection of SLC22A5 mutations: A feasibility study for secondary screening of primary carnitine deficiency in newborns.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2026

Gong Lifei, Zhao Jinqi, Li Lulu, Liu Wei, Wan Zhihui, Tang Yue, Wang Shunan, Cai Bolun, Zhao Yufei, Kong Yuanyuan

Abstract excerpt

This study aimed to evaluate the feasibility of using MassARRAY molecular mass spectrometry to detect SLC22A5 gene mutations in second-tier screening for primary carnitine deficiency (PCD) among newborns. The goal is to provide technical evidence to support improvements in PCD screening and to reduce diagnostic delays. We first reviewed literature and databases to identify commonly reported pathogenic variants in...

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Source

Identifiers

PMID: 41974402
DOI: 10.1016/j.cca.2026.121001

Genes

SLC22A5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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