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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2022-12-01
coleção:	Frontiers in Genetics
Assuntos:	primary carnitine deficiency SLC22A5 newborn screening tandem mass spectrometry free carnitine
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2022.1062715/full
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