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Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics

Abstract Background Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in the SLC22A5 gene, with its prevalence and the spectrum of mutations in SLC22A5 varying across races and regions. This study aimed to analyze the clinical and genet...

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Principais autores: Haili Hu, Qingqing Ma, Yan Wang, Wangsheng Song, Hongyu Xu
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-03-01
Serier:Italian Journal of Pediatrics
Fag:
Primary carnitine deficiency
Newborn screening
Tandem mass spectrometry
SLC22A5 gene mutation
Online adgang:https://doi.org/10.1186/s13052-025-01911-1
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