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

ABSTRACT:

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 of Science, and Chinese databases were searched up to November 2023. Following quality assessment and data extraction, a meta-analysis was performed on screening results for PCD among Chinese newborns.

Results

After reviewing 1,889 articles, 22 studies involving 9,958,380 newborns and 476 PCD cases were included. Of the 476 patients with PCD, 469 underwent genet

SUBMITTER: Zhou J 

PROVIDER: S-EPMC11220949 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature