{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T23:24:43Z","timestamp":1782948283136,"version":"3.54.5"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,12,27]],"date-time":"2004-12-27T00:00:00Z","timestamp":1104105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2005,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise. It has been suggested that carriers of <jats:italic>CPT2<\/jats:italic> gene mutations also may have milder clinical symptoms, but fatty acid oxidation (FAO) has never been investigated in vivo in this group. We studied fuel utilization by indirect calorimetry and stable isotope methodology in four patients with CPT II deficiency, three subjects who carried one <jats:italic>CPT2<\/jats:italic> gene mutation, and five healthy control subjects. Cycle exercise at a constant workload of 50% of maximal oxygen uptake capacity was used to facilitate FAO. We found that in vivo oxidation of long\u2010chain fatty acids was normal at rest but severely impaired during prolonged, low\u2010intensity exercise in patients with CPT II deficiency, and that two of the single <jats:italic>CPT2<\/jats:italic> gene mutation carriers, who displayed symptoms of CPT II deficiency, had an FAO comparable with the patients. These results indicate that residual CPT II activity is sufficient to maintain long\u2010chain FAO at rest in CPT II deficiency but not to increase FAO during exercise. The findings also suggest that single <jats:italic>CPT2<\/jats:italic> gene mutations may exert a dominant\u2010negative effect on the tetrameric CPT II protein. 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