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 PCD using Genome Aggregation Database (gnomAD) data.

Methods

The pathogenicity of SLC22A5 variants was interpreted according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. The minor allele frequency (MAF) of the variants of the SLC22A5 gene in 807,162 individuals was examined to estimate the global prevalence of PCD in nine ethnicities: African/African American (afr), Admixed American (amr), East Asian (eas), Non-Finnish European (nfe), South Asia

SUBMITTER: Sun L 

PROVIDER: S-EPMC12235876 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature