Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis
Jinfu Zhou,
Guilin Li,
Yinglin Zeng
et al.
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… Show more
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