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2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.

Publication ,  Journal Article
Roe, CR; Millington, DS; Norwood, DL; Kodo, N; Sprecher, H; Mohammed, BS; Nada, M; Schulz, H; McVie, R
Published in: J Clin Invest
May 1990

Several inherited disorders of fatty acid beta-oxidation have been described that relate mainly to saturated precursors. This study is the first report of an enzyme defect related only to unsaturated fatty acid oxidation and provides the first in vivo evidence that fat oxidation in humans proceeds by the reductase-dependent pathway. The patient was a black female, presenting in the neonatal period with persistent hypotonia. Biochemical studies revealed hyperlysinemia, hypocarnitinemia, normal organic acid profile, and an unusual acylcarnitine species in both urine and blood. The new metabolite was positively identified by mass spectrometry as 2-trans,4-cis-decadienoylcarnitine, derived from incomplete oxidation of linoleic acid. In spite of dietary therapy, the patient died of respiratory acidosis at four months of age. Samples of liver and muscle from the autopsy were assayed for 2,4-dienoyl-coenzyme A reductase activity. Using the substrate 2-trans,4-cis-decadienoylcoenzyme A, the reductase activity was 40% of the control value in liver and only 17% of that found in normal muscle. It is suggested that unsaturated substrates should be used for in vitro testing to cover the full range of potential beta-oxidation defects and that acylcarnitine species identification be used for in vivo detection of this disorder.

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Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

May 1990

Volume

85

Issue

5

Start / End Page

1703 / 1707

Location

United States

Related Subject Headings

  • Reference Values
  • Oxidoreductases Acting on CH-CH Group Donors
  • Muscles
  • Liver
  • Lipid Metabolism, Inborn Errors
  • Linoleic Acids
  • Linoleic Acid
  • Immunology
  • Humans
  • Gas Chromatography-Mass Spectrometry
 

Citation

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Roe, C. R., Millington, D. S., Norwood, D. L., Kodo, N., Sprecher, H., Mohammed, B. S., … McVie, R. (1990). 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest, 85(5), 1703–1707. https://doi.org/10.1172/JCI114624
Roe, C. R., D. S. Millington, D. L. Norwood, N. Kodo, H. Sprecher, B. S. Mohammed, M. Nada, H. Schulz, and R. McVie. “2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.J Clin Invest 85, no. 5 (May 1990): 1703–7. https://doi.org/10.1172/JCI114624.
Roe CR, Millington DS, Norwood DL, Kodo N, Sprecher H, Mohammed BS, et al. 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest. 1990 May;85(5):1703–7.
Roe, C. R., et al. “2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.J Clin Invest, vol. 85, no. 5, May 1990, pp. 1703–07. Pubmed, doi:10.1172/JCI114624.
Roe CR, Millington DS, Norwood DL, Kodo N, Sprecher H, Mohammed BS, Nada M, Schulz H, McVie R. 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest. 1990 May;85(5):1703–1707.

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

May 1990

Volume

85

Issue

5

Start / End Page

1703 / 1707

Location

United States

Related Subject Headings

  • Reference Values
  • Oxidoreductases Acting on CH-CH Group Donors
  • Muscles
  • Liver
  • Lipid Metabolism, Inborn Errors
  • Linoleic Acids
  • Linoleic Acid
  • Immunology
  • Humans
  • Gas Chromatography-Mass Spectrometry