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Article

From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.

Journal of cellular and molecular medicine - 1 Jul 2026

Ghaffari Jolfayi Amir, Soveizi Mahdieh, Naderi Niloofar, Soheili Amirali, Pourirahim Maryam, Abdolkarimi Leyla, Maleki Majid, Kalayinia Samira

Abstract excerpt

Primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). These mutations impair carnitine transport and fatty acid metabolism, leading to a wide range of clinical symptoms, from mild fatigue to severe cardiomyopathy. Although over 100 mutations have been identified, the correlation between specific...

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Identifiers

PMID: 42480505
DOI: 10.1111/jcmm.71273
PMCID: PMC13387816

Genes

SLC22A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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