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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Mette C ØRngreen
  • Mette Nørgaard
  • Massimo Sacchetti
  • Baziel G M van Engelen
  • Vissing, John
  • Mette Gitz Charlot
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.
TidsskriftAnnals of Neurology
Udgave nummer2
Sider (fra-til)279-83
Antal sider5
StatusUdgivet - 1 aug. 2004

ID: 34085619