Leucocyte fatty acid oxidation in hereditary neuromuscular disorders. A preliminary report

An attempt has been made to screen for an enzyme defect in the metabolic pathway involved in fatty acid oxidation (β-oxidation) using peripheral blood leucocytes from patients with various neuromuscular disorders. The widely-used technique of ¹⁴CO₂ trapping and subsequent scintillation counting was employed. In controls the values obtained were unrelated to age or sex. No significant difference was found between the values in patients with various forms of muscular dystrophy and in controls. However, in 2 patients with Duchenne muscular dystrophy the values were lower than in patients with other forms of dystrophy.