Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

J. L K Van Hove, S. G. Kahler, M. D. Feezor, J. P. Ramakrishna, P. Hart, W. R. Treem, J. J. Shen, D. Matern, D. S. Millington

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

The acylcarnitines in plasma and blood spots of 23 patients with proven deficiency of long-chain 3-hydroxyacylcoenzyme A dehydrogenase were reviewed. Long-chain 3-hydroxyacylcarnitines of C(14:1), C14, C16 and C(18:1) chain length, and long-chain acylcarnitines of C12, C(14:1), C14, C16, C(18:2) and C(18:1) chain length were elevated. Acetylcarnitine was decreased. In plasma, elevation of hydroxy-C(18:1) acylcarnitine over the 95th centile of controls, in combination with an elevation of two of the three acylcarnitines C14, C(14:1) and hydroxy-C16, identified over 85% of patients with high specificity (less than 0.1% false positive rate). High endogenous levels of long-chain acylcarnitines in normal erythrocytes reduced the diagnostic specificity in blood spots compared with plasma samples. The results were also diagnostic in asymptomatic patients, and were not influenced by genotype. Treatment with diet low in fat and high in medium-chain triglyceride decreased all disease-specific acylcarnitines, often to normal, suggesting that this assay is useful in treatment monitoring.

Original languageEnglish (US)
Pages (from-to)571-582
Number of pages12
JournalJournal of Inherited Metabolic Disease
Volume23
Issue number6
DOIs
StatePublished - 2000
Externally publishedYes

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Acetylcarnitine
Fat-Restricted Diet
acylcarnitine
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Oxidoreductases
Triglycerides
Erythrocytes
Genotype
Therapeutics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Van Hove, J. L. K., Kahler, S. G., Feezor, M. D., Ramakrishna, J. P., Hart, P., Treem, W. R., ... Millington, D. S. (2000). Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 23(6), 571-582. https://doi.org/10.1023/A:1005673828469

Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. / Van Hove, J. L K; Kahler, S. G.; Feezor, M. D.; Ramakrishna, J. P.; Hart, P.; Treem, W. R.; Shen, J. J.; Matern, D.; Millington, D. S.

In: Journal of Inherited Metabolic Disease, Vol. 23, No. 6, 2000, p. 571-582.

Research output: Contribution to journalArticle

Van Hove, JLK, Kahler, SG, Feezor, MD, Ramakrishna, JP, Hart, P, Treem, WR, Shen, JJ, Matern, D & Millington, DS 2000, 'Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency', Journal of Inherited Metabolic Disease, vol. 23, no. 6, pp. 571-582. https://doi.org/10.1023/A:1005673828469
Van Hove, J. L K ; Kahler, S. G. ; Feezor, M. D. ; Ramakrishna, J. P. ; Hart, P. ; Treem, W. R. ; Shen, J. J. ; Matern, D. ; Millington, D. S. / Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. In: Journal of Inherited Metabolic Disease. 2000 ; Vol. 23, No. 6. pp. 571-582.
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AU - Ramakrishna, J. P.

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AU - Treem, W. R.

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