The global prevalence and genetic spectrum of primary carnitine deficiency

The global prevalence and genetic spectrum of primary carnitine deficiency

Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive rare disorder of carnitine cycle and carnitine transport caused by pathogenic variants in the SLC22A5 gene. The prevalence of PCD is unclear. This study aimed to estimate the carrier frequency and genetic prevalence of...

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Bibliographic Details
Main Authors: Liu Sun, Ke Yao, Hang-Jing Wu
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Genomic Data
Subjects:
Solute carrier family 22 member 5 (SLC22A5)
Organic cation/Carnitine transporter 2 (OCTN2)
Primary carnitine deficiency (PCD)
Genome aggregation database (gnomAD)
Rare diseases
Carrier frequency
Online Access:https://doi.org/10.1186/s12863-025-01336-z
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https://doi.org/10.1186/s12863-025-01336-z

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