The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Treatment of carnitine deficiency
Abstract
Summary: Carnitine deficiency is a secondary complication of many inborn errors of metabolism. Pharmacological treatment with carnitine not only corrects the deficiency, it facilitates removal of accumulating toxic acyl intermediates and the generation of mitochondrial free coenzyme A (CoA). The United States Food and Drug Administration (US FDA) approved the use of carnitine for the treatment of inborn errors of metabolism in 1992. This approval was based on retrospective chart analysis of 90 patients, with 18 in the untreated cohort and 72 in the treated cohort. Efficacy was evaluated on the basis of clinical and biochemical findings. Compelling data included increased excretion of disease‐specific acylcarnitine derivatives in a dose–response relationship, decreased levels of metabolites in the blood, and improved clinical status with decreased hospitalization frequency, improved growth and significantly lower mortality rates as compared to historical controls. Complications of carnitine treatment were few, with gastrointestinal disturbances and odour being the most frequent. No laboratory or clinical safety issues were identified. Intravenous carnitine preparations were also approved for treatment of secondary carnitine deficiency. Since only 25% of enteral carnitine is absorbed and gastrointestinal tolerance of high doses is poor, parenteral carnitine treatment is an appealing alternative therapeutic approach. In 7 patients treated long term with high‐dose weekly to daily venous boluses of parenteral carnitine through a subcutaneous venous port, benefits included decreased frequency of decompensations, improved growth, improved muscle strength and decreased reliance on medical foods with liberalization of protein intake. Port infections were the most troubling complication. Theoretical concerns continue to be voiced that carnitine might result in fatal arrhythmias in patients with long‐chain fat metabolism defects. No published clinical studies substantiate these concerns. Carnitine treatment of inborn errors of metabolism is a safe and integral part of the treatment regime for these disorders.
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“Numerous case reports have found that carnitine therapy alleviates these symptoms (reviewed in Ref. 40).”
From Carnitine insufficiency caused by aging and overnutrition compromises mitochondrial performance and metabolic control (2009) · cites this paper as [40]
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Cites
Bonnet, D., Martin, D., de Lonlay, P., Villain, E., Jouvet, P. A., Rabier, D., Brivet, M., & Saudubray, J. (1999) · Circulation · doi:10.1161/01.cir.100.22.2248 · Cited by 309
Carnitine Metabolism and Function in Humans
Rebouche, C. J., & Paulson, D. J. (1986) · Annual Review of Nutrition · doi:10.1146/annurev.nu.06.070186.000353 · Cited by 251
den Boer, M. E. J., Wanders, R. J. A., Morris, A. A. M., IJlst, L., Heymans, H. S. A., & Wijburg, F. A. (2002) · PEDIATRICS · doi:10.1542/peds.109.1.99 · Cited by 197
Primary and Secondary Carnitine Deficiency Syndromes
Pons, R. M., & Vivo, D. C. D. (1995) · Journal of Child Neurology · doi:10.1177/0883073895010002s03 · Cited by 193
Effect of l -carnitine treatment for valproate-induced hepatotoxicity
Bohan, T. P., Helton, E. D., McDonald, I., König, S. A., Gazitt, S., Sugimoto, T., Scheffner, D., Cusmano, L., Li, S., & Koch, G. G. (2001) · Neurology · doi:10.1212/wnl.56.10.1405 · Cited by 188
Tyni, T. A., Palotie, A. V., Viinikka, L. U., Valanne, L. K., Salo, M. K., von Döbeln, U., Jackson, S., Wanders, R. J. A., Venizelos, N., & Pihko, H. S. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)70312-3 · Cited by 129
Rocchicciolo, F., Wanders, R. J. A., Aubourg, P. R., Vianey‐Saban, C., Ijlst, L., Fabrè, M., Cartier, N., & Bougneres, P. F. (1990) · Pediatric Research · doi:10.1203/00006450-199012000-00023 · Cited by 123
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Winter, S. C. (1987) · American journal of diseases of children · doi:10.1001/archpedi.1987.04460060076039 · Cited by 106
Self-citationLong-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Jackson, S., Bartlett, K., Land, J. M., Moxon, E. R., Pollitt, R. J., Leonard, J. V., & Turnbull, D. M. (1991) · Pediatric Research · doi:10.1203/00006450-199104000-00016 · Cited by 106
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High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
Spada, M., Pagliardini, S., Yasuda, M., Tükel, T., Thiagarajan, G., Sakuraba, H., Ponzone, A., & Desnick, R. J. (2006) · The American Journal of Human Genetics · doi:10.1086/504601 · Cited by 1,007
Flanagan, J. L., Simmons, P. A., Vehige, J., Willcox, M. D., & Garrett, Q. (2010) · Nutrition & Metabolism · doi:10.1186/1743-7075-7-30 · Cited by 611
“Secondary carnitine deficiency can be caused by increased losses, pharmacological therapy, a number of inherited metabolic disorders [38], poor diet or malabsorption of carnitine, from increased renal tubular loss of free carnitine (Fanconi syndrome), haemodialysis, peritoneal dialysis, or the increased excretion of a…”
BackgroundNoland, R. C., Koves, T. R., Seiler, S. E., Lum, H., Lust, R. M., Ilkayeva, O., Stevens, R. D., Hegardt, F. G., & Muoio, D. M. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.032888 · Cited by 317
Lin, S.-P., Chong, K.-W., Hsu, J.-H., Yu, H.-C., Shih, C.-C., Huang, C.-H., Lin, S., Chen, C.-H., Chiang, C.-C., Ho, H.-J., et al. (2009) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.109.862920 · Cited by 269
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies
Wajner, M., & Amaral, A. U. (2015) · Bioscience Reports · doi:10.1042/bsr20150240 · Cited by 230
Metadata
- Authors
- Winter, S. C.
- Affiliations
- University of California, San Francisco (US)
- Corresponding author
- Winter, S. C.
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 2003-03
- Volume
- 26
- Issue
- 2-3
- Pages
- 171-180
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W170762119
- Cited by
- 60
- References
- 17
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 4 · 2019: 2 · 2018: 4 · 2016: 3 · 2015: 3 · 2014: 1 · 2013: 5 · 2012: 2
- FWCI
- 1.33
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Nursing › Nutrition and Dietetics › Clinical Nutrition and Gastroenterology
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- carnitine deficiency, inborn errors of metabolism, pharmacotherapy, acylcarnitines, gastrointestinal tolerance, port infection, long-chain fatty acid oxidation disorders, arrhythmia risk, treatment safety, growth and mortality
- MeSH terms
- Carnitine, Humans, Metabolism, Inborn Errors, 3-Hydroxyacyl CoA Dehydrogenases
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