Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency

Mette C ØRngreen, Mette Nørgaard, Massimo Sacchetti, Baziel G M van Engelen, John Vissing, Mette Gitz Charlot

    Research output: Contribution to journalJournal articleResearchpeer-review

    46 Citations (Scopus)

    Abstract

    Fuel utilization in two adult patients with the myopathic form of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and five healthy subjects was investigated with stable isotopes during exercise at 50% of VO2max. The findings indicate that residual VLCAD activity in the patients is sufficient to maintain normal oxidation of fat at rest, but that fat oxidation rate cannot increase above basal levels during exercise. This can cause an energy deficit and intramuscular accumulation of fat intermediates that may induce the exercise-induced symptoms.
    Original languageEnglish
    JournalAnnals of Neurology
    Volume56
    Issue number2
    Pages (from-to)279-83
    Number of pages5
    ISSN0364-5134
    DOIs
    Publication statusPublished - 1 Aug 2004

    Cite this