Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening

Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 member 5 (SLC22A5) gene is a rare autosomal recessive disease that results in defective fatty acid oxidation. PCD can be detected through tandem mass spectrometry (MS/MS), but transplacental transport of...

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Bibliographic Details
Main Authors: Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Dong
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-12-01
Series:Frontiers in Genetics
Subjects:
primary carnitine deficiency
SLC22A5
prevalence estimation
newborn screening
genotype–phenotype analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1304458/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1304458/full

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