Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). Patients with PCD may be at risk of skeletal or cardiac myopathy, metabolic decompensation, and even sudden death. This st...

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Bibliographic Details
Main Authors: Siyu Chang, Yi Yang, Feng Xu, Wenjun Ji, Xia Zhan, Xiaolan Gao, Ting Chen, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Kaichuang Zhang, Xuefan Gu, Lianshu Han
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Genetics
Subjects:
primary carnitine deficiency
SLC22A5
newborn screening
tandem mass spectrometry
free carnitine
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1062715/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1062715/full

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