ArticleMolecular genetics and metabolism reports2014
Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.
Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 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
- Using dried blood spot samples from a trio for linked-read whole-exome sequencing.European journal of human genetics : EJHG · 2019Trial
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- Article
- SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands.BMC genomics · 2023Article
- Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands.JIMD reports · 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
- Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.Journal of clinical medicine · 2021Review
- Article
- Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.Molecular genetics and metabolism reports · 2021Article
- Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.Molecular genetics and metabolism reports · 2020Article
- Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study.Scientific reports · 2019Article
- Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?JIMD reports · 2017Article
- Carnitine transport and fatty acid oxidation.Biochimica et biophysica acta · 2016Review
- Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.JIMD reports · 2015Article
- Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation.JIMD reports · 2015Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe prevalence of primary carnitine deficiency (PCD) in the Faroe Islands is the highest reported in the world (1:300). Serious symptoms related to PCD, e.g. sudden death, have previously only been associated to the c.95A > G/c.95A > G genotype in the Faroe Islands. We report and characterize novel mutations associated with PCD in the Faroese population and report and compare free carnitine levels and OCTN2 transport activities measured in fibroblasts from PCD patients with different genotypes.
methodsGenetic analyses were used to identify novel mutations, and carnitine uptake analyses in cultured skin fibroblasts from selected patients were used to examine residual OCTN2 transporter activities of the various genotypes.
resultsFour different mutations, including the unpublished c.131C > T (p.A44V), the novel splice mutation c.825-52G > A and a novel risk-haplotype (RH) were identified in the Faroese population. The two most prevalent genotypes were c.95A > G/RH (1:600) and c.95A > G/c.95A > G (1:1300). Patients homozygous for the c.95A > G mutation had both the significantly (
conclusionThere was a significant positive correlation between carnitine levels and OCTN2 transporter activities. The c.95A > G/c.95A > G genotype had the significantly lowest mean free carnitine level and residual OCTN2 transporter activity.
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