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Article

Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.

Orphanet journal of rare diseases - 3 Jul 2024

Zhou Jinfu, Li Guilin, Zeng Yinglin, Qiu Xiaolong, Zhao Peiran, Huang Ting, Wang Xi, Luo Jinying, Lin Na, Xu Liangpu

Abstract excerpt

BACKGROUND: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and regions. This study aimed to systematically analyze the incidence of PCD in China and delineate regional differences in the prevalence of PCD and SLC22A5 gene variants. METHODS: PubMed, Embase, Web...

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Source

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Identifiers

PMID: 38961493
DOI: 10.1186/s13023-024-03267-x
PMCID: PMC11220949

Genes

SLC22A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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