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Departments of Neurology and Neurosurgery, Pediatrics, and Medicine, McGill University, Montreal, Canada, and the Mayo Clinic and Mayo Foundation, Rochester, Minnesota (Dr. Engel).
An 11 -year-old boy had had recurrent episodes of hepatic and cerebral dysfunction and underdeveloped musculature. Overt weakness developed at age 10. Lipid excess, especially in type I fibers, was found in muscle. Hypertrophied smooth endoplasmic reticulum and excessive microbodies were present in liver. Marked carnitine deficiency was shown in skeletal muscle, plasma, and liver. Ketogenesis was impaired on a high fat diet, but omega oxidation of fatty acids was enhanced. There was excessive glucose uptake and essentially no oxidation of labeled long-chain fatty acids by perfused forearm muscles in vivo. Oral replacement therapy restored plasma carnitine levels to normal, but not liver or muscle carnitine levels, and was accompanied by clinical improvement.
This study was supported in part by the Muscular Dystrophy Association of Canada, the Medical Research Council of Canada, The Isaac Walton Killam Memorial Fund of the Montreal Neurological Institute, and by USPHS grant NS6277 (Dr. Engel).
Received for publication August 5, 1974.
Dr. Karpati's address is Montreal Neurological Institute, 3801 University St., Montreal, Que., Canada H3A 2B4.
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