ArticleJIMD reports2023
Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands.
Article in JIMD reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.Annals of medicine · 2026Review
- 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
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- 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
- Carnitine Deficiency in Chronic Kidney Disease: Pathophysiology, Clinical Implications, and Therapeutic Perspectives.Nutrients · 2025Review
- Neuroprotective effects of L-carnitine towards oxidative stress and inflammatory processes: a review of its importance as a therapeutic drug in some disorders.Metabolic brain disease · 2025Review
- 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
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long-chain fatty acids across the inner mitochondrial membrane for β-oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is the highest in the world. The Faroese PCD patient cohort has been closely monitored and we now report results from a 10-year follow-up study of 139 PCD patients. Four patients have died of natural causes since diagnosis. There were no signs of cardiac complications related to PCD. 70.5% reported an effect of L-carnitine treatment. 33.7% reported current symptoms with fatigue and low stamina being the most common. 65.1% had experienced side effects during L-carnitine treatment. Most common side effects were fish odor, abdominal pain, and diarrhea. The overall mean L-carnitine dosage was 66.3 mg/kg/day. Free p-carnitine was similar between male and female patients on L-carnitine-18.6 and 18.8 μmol/L, respectively. L-carnitine supplementation seems to be a safe and effective treatment when suffering from PCD. PCD patients in the Faroe Islands are alive and doing well more than 10 years after diagnosis.
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