Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome
AG Engel, C Angelini - Science, 1973 - science.org
Science, 1973•science.org
In a rare myopathy muscle fibers contained myriad lipid-filled vacuoles. Homogenates of the
patient's muscle oxidized fatty acids more slowly than normal (11 controls). Addition of
carnitine increased the oxidation rate with the patient's muscle to the level attained by the
controls with carnitine. In five separate muscle samples from the patient the mean carnitine
level was less than 20 percent of that observed in 42 controls. Carnitine palmityl transferase
and palmityl thiokinase levels in the patient's muscles were not depressed. The present case …
patient's muscle oxidized fatty acids more slowly than normal (11 controls). Addition of
carnitine increased the oxidation rate with the patient's muscle to the level attained by the
controls with carnitine. In five separate muscle samples from the patient the mean carnitine
level was less than 20 percent of that observed in 42 controls. Carnitine palmityl transferase
and palmityl thiokinase levels in the patient's muscles were not depressed. The present case …
In a rare myopathy muscle fibers contained myriad lipid-filled vacuoles. Homogenates of the patient's muscle oxidized fatty acids more slowly than normal (11 controls). Addition of carnitine increased the oxidation rate with the patient's muscle to the level attained by the controls with carnitine. In five separate muscle samples from the patient the mean carnitine level was less than 20 percent of that observed in 42 controls. Carnitine palmityl transferase and palmityl thiokinase levels in the patient's muscles were not depressed. The present case represents the first recognized instance of carnitine deficiency in human skeletal muscle.
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