Article

The global prevalence and genetic spectrum of primary carnitine deficiency

2024-05-31

Abstract excerpt

<h4>Background</h4> Primary carnitine deficiency (PCD) is an autosomal recessive rare disorder of carnitine cycle and carnitine transport caused by mutations 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. <h4>Methods</h4> The pathogenicity of SLC22A5 variants was interpreted a...

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Literature Corpus work: 00a3670e-6a08-5db9-ad2b-f9881a9011bf
DOI: 10.1101/2024.05.29.24308100

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