Cited by 60Metabolism and Genetic DisordersClinical Nutrition and GastroenterologyLysosomal Storage Disorders Research

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Treatment of carnitine deficiency

Winter, S. C.·2003·Journal of Inherited Metabolic Disease

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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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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
DOI: 10.1023/a:1024433100257
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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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Treatment of carnitine deficiency

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