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© 1981 American Academy of Neurology Riboflavin-responsive lipid myopathy and carnitine deficiencyDepartments of Pediatrics, Neurology, and Neurosurgery (Neurology) (Dr. Carroll), the Department of Neurology and Neurosurgery (Neurology) (Drs. Shumate and Brooke), and the Department of Preventive Medicine (Dr. Hagberg), Washington University School of Medicine, St. Louis, MO. Address correspondence and reprint requests to Dr. Carroll, Department of Neurology, Box 8111, Washington University School of Medicine, 660 S. Euclid, St. Louis, MO 63110. We used riboflavin to treat a patient with lipid myopathy, reduced exercise capacity, intolerance to fasting, and reduced concentrations of carnitine in muscle and serum. Although carnitine concentrations did not change, exercise capacity doubled, and response to fasting improved. Muscle enzyme assay showed that palmityl CoA dehydrogenase activity with and without added flavin adenine dinucleotide (a riboflavin product) was normal. Another riboflavin derivative, electron transfer flavoprotein, could be the site of the defect.
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