Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • Vascular Malformations (Apr 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
Top
  • View PDF
  • Download citation information
  • Send a comment
  • Terms of use
  • Standard abbreviations
  • Need help? Email the journal
  • Top
  • Abstract
  • Version history
  • Article usage
  • Citations to this article

Advertisement

Research Article Free access | 10.1172/JCI115983

Combined enzyme defect of mitochondrial fatty acid oxidation.

S Jackson, R S Kler, K Bartlett, H Briggs, L A Bindoff, M Pourfarzam, D Gardner-Medwin, and D M Turnbull

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Jackson, S. in: PubMed | Google Scholar

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Kler, R. in: PubMed | Google Scholar

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Bartlett, K. in: PubMed | Google Scholar

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Briggs, H. in: PubMed | Google Scholar

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Bindoff, L. in: PubMed | Google Scholar

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Pourfarzam, M. in: PubMed | Google Scholar

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Gardner-Medwin, D. in: PubMed | Google Scholar

Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, United Kingdom.

Find articles by Turnbull, D. in: PubMed | Google Scholar

Published October 1, 1992 - More info

Published in Volume 90, Issue 4 on October 1, 1992
J Clin Invest. 1992;90(4):1219–1225. https://doi.org/10.1172/JCI115983.
© 1992 The American Society for Clinical Investigation
Published October 1, 1992 - Version history
View PDF
Abstract

A young girl presented with recurrent episodes of muscle weakness culminating in a severe attack of generalized muscle weakness. In the muscle mitochondria from the patient there was an abnormal pattern of intermediates of beta-oxidation with an accumulation of 3-hydroxyacyl- and 2-enoyl-CoA and carnitine esters, and 3-oxoacylcarnitines. There was low activity of long-chain 3-hydroxyacyl-CoA dehydrogenase in mitochondria from all tissues. The activity of long-chain 2-enoyl-CoA hydratase was low in muscle mitochondria and 3-oxoacyl-CoA thiolase activity measured with 3-oxohexadecanoyl-CoA as substrate was low in fibroblast, muscle, and cardiac mitochondria but only partial deficiency was present when the activity was measured with 3-oxooctanoyl-CoA. The activity of the long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-oxoacyl-CoA thiolase in fibroblasts from the patient's parents was intermediate between those of controls and the patient. The patient has a combined defect of the long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase which appears to be inherited in an autosomal recessive manner. This suggests there is a multifunctional enzyme catalyzing these activities in human mitochondria and that this enzyme is deficient in our patient.

Browse pages

Click on an image below to see the page. View PDF of the complete article

icon of scanned page 1219
page 1219
icon of scanned page 1220
page 1220
icon of scanned page 1221
page 1221
icon of scanned page 1222
page 1222
icon of scanned page 1223
page 1223
icon of scanned page 1224
page 1224
icon of scanned page 1225
page 1225
Version history
  • Version 1 (October 1, 1992): No description

Article tools

  • View PDF
  • Download citation information
  • Send a comment
  • Terms of use
  • Standard abbreviations
  • Need help? Email the journal

Metrics

  • Article usage
  • Citations to this article

Go to

  • Top
  • Abstract
  • Version history
Advertisement
Advertisement

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts