ArticleHuman mutation2017
Functional and molecular studies in primary carnitine deficiency.
Article in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Journal of cellular and molecular medicine · 2026Pooled it
- Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- Molecular investigation in Chinese patients with primary carnitine deficiency.Molecular genetics & genomic medicine · 2019Trial
- Newborn Screening of Primary Carnitine Deficiency and Prenatal Genetic Diagnosis for a Recurrence-Risk Family.Molecular genetics & genomic medicine · 2026Article
- Sudden Cardiac Arrest and Takotsubo-Like Cardiomyopathy as the Initial Presentation of Primary Carnitine Deficiency.JACC. Case reports · 2026Article
- Pathogenic Analysis of TwoInternational journal of neonatal screening · 2026Article
- OCTN2 Activates a Non-Canonical Carnitine Metabolic Pathway to Promote MASH-HCC Progression and Immunotherapy Resistance.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Structural basis of sodium ion-dependent carnitine transport by OCTN2.Nature communications · 2025Article
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- The global prevalence and genetic spectrum of primary carnitine deficiency.BMC genomic data · 2025Article
- Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.Italian journal of pediatrics · 2025Article
- L-carnitine: new perspectives on the management of preterm infants.Frontiers in nutrition · 2025Review
- The Human OCTN Sub-Family: Gene and Protein Structure, Expression, and Regulation.International journal of molecular sciences · 2024Review
- Inflammation and Organic Cation Transporters Novel (OCTNs).Biomolecules · 2024Review
- Secondary Carnitine Deficiency in Neonates and Infants Requiring Surgery for Intestinal Obstructions-An Underestimated and Undermanaged Problem.Children (Basel, Switzerland) · 2024Article
- A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.BMC cardiovascular disorders · 2024Article
- Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients.Molecular genetics and genomics : MGG · 2023Article
- A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.Children (Basel, Switzerland) · 2023Article
- Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.International journal of neonatal screening · 2023Review
- A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.Human mutation · 2023Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Primary carnitine deficiency is caused by a defect in the OCTN2 carnitine transporter encoded by the SLC22A5 gene. It can cause hypoketotic hypoglycemia or cardiomyopathy in children, and sudden death in children and adults. Fibroblasts from affected patients have reduced carnitine transport. We evaluated carnitine transport in fibroblasts from 358 subjects referred for possible carnitine deficiency. Carnitine transport was reduced to 20% or less of normal in fibroblasts of 140 out of 358 subjects. Sequencing of the 10 exons and flanking regions of the SLC22A5 gene in 95 out of 140 subjects identified causative variants in 84% of the alleles. The missense variants identified in our patients and others previously reported (n = 92) were expressed in CHO cells. Carnitine transport was impaired by 73 out of 92 variants expressed. Prediction algorithms (Polyphen-2, SIFT) correctly predicted the functional effects of expressed variants in about 80% of cases. These results indicate that mutations in the coding region of the SLC22A5 gene cannot be identified in about 16% of the alleles causing primary carnitine deficiency. Prediction algorithms failed to determine the functional effects of amino acid substitutions in this transmembrane protein in about 20% of cases. Therefore, functional studies in fibroblasts remain the best strategy to confirm or exclude a diagnosis of primary carnitine deficiency.
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