ReviewJournal of inherited metabolic disease2022
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.
Review in Journal of inherited metabolic disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 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
- Primary Carnitine Deficiency: A Stitch in Time Saves Nine.Indian journal of pediatrics · 2026Article
- Optimising Formulations for Paediatric Patients with Inherited Metabolic Disorders: The Case Study of Levocarnitine.Pharmaceutical medicine · 2026Review
- Pathogenic Analysis of TwoInternational journal of neonatal screening · 2026Article
- L-carnitine in metabolic dysfunction-associated steatotic liver disease: mechanisms and therapeutic potential.Frontiers in nutrition · 2026Review
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- Lysine: Sources, Metabolism, Physiological Importance, and Use as a Supplement.International journal of molecular sciences · 2025Review
- The global prevalence and genetic spectrum of primary carnitine deficiency.BMC genomic data · 2025Article
- Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.Journal of inherited metabolic disease · 2025Review
- Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency.International journal of neonatal screening · 2025Article
- Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.Italian journal of pediatrics · 2025Article
- Incorporating Next-Generation Sequencing as a Second-Tier Test for Primary Carnitine Deficiency.Molecular genetics & genomic medicine · 2024Article
- Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.Orphanet journal of rare diseases · 2024Article
- Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.Frontiers in public health · 2024Article
- Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.Journal of medical genetics · 2023Article
- A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.Orphanet journal of rare diseases · 2023Article
- Review
- Pathophysiology and Management of Fatigue in Neuromuscular Diseases.International journal of molecular sciences · 2023Review
- 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
- Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.JIMD reports · 2023Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in newborn screening (NBS) programs has led to the identification of an increasing number of PCD patients, including mothers of screened newborns, who may show a different phenotype compared to clinically diagnosed patients. To elucidate the spectrum of signs and symptoms in PCD patients, we performed a structured literature review. Using a case-by-case approach, clinical characteristics, diagnostic data, and mode of patient identification were recorded. Signs and symptoms were categorized by organ involvement. In total, 166 articles were included, reporting data on 757 individual patients. In almost 20% (N = 136) of the cases, the diagnosis was based solely on low carnitine concentration which we considered an uncertain diagnosis of PCD. The remaining 621 cases had a diagnosis based on genetic and/or functional (ie, carnitine transporter activity) test results. In these 621 cases, cardiac symptoms (predominantly cardiomyopathy) were the most prevalent (23.8%). Neurological (7.1%), hepatic (8.4%), and metabolic (9.2%) symptoms occurred mainly in early childhood. Adult onset of symptoms occurred in 16 of 194 adult patients, of whom 6 (3.1%) patients suffered a severe event without any preceding symptom (five cardiac events and one coma). In conclusion, symptoms in PCD predominantly develop in early childhood. Most newborns and mothers of newborns detected through NBS remain asymptomatic. However, though rarely, severe complications do occur in both groups.
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