Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency.
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.
The Copenhagen Muscle Research Center and the Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark. rh10679@rh.dk
Mette C
MC
ØRngreen
Mette G
MG
Nørgaard
Massimo
M
Sacchetti
Baziel G M
BG
van Engelen
John
J
Vissing
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D000328:Adult; D001786:Blood Glucose / Q000378:metabolism; D002245:Carbon Dioxide / Q000097:blood; D002247:Carbon Isotopes / Q000097:blood; D015444:Exercise / Q000502:physiology; D005227:Fatty Acids / Q000378:metabolism*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D007328:Insulin / Q000097:blood; D019344:Lactic Acid / Q000097:blood; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000201:enzymology* / Q000378:metabolism / Q000503:physiopathology; D010100:Oxygen / Q000097:blood
D001786:Blood Glucose; D002247:Carbon Isotopes; D005227:Fatty Acids; D007328:Insulin; D002245:Carbon Dioxide; D019344:Lactic Acid; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D010100:Oxygen