Muscle Nerve. 1993 Feb.
Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy.
Campos Y, Huertas R, Lorenzo G, Bautista J, Gutierrez E, Aparicio M, Alesso L, Arenas J.
Centro de Investigacion, Hospital 12 de Octubre, Madrid, Spain.

Plasma carnitine "insufficiency," (plasma esterified carnitine to free carnitine ratio above 0.25) was found in 21 of 48 (43.8%) patients with mitochondrial myopathy, of whom 4 also showed both total and free carnitine deficiencies in plasma. In addition, plasma levels of SCAC [short-chain acylcarnitines] and LCAC [long-chain acylcarnitines] were higher in patients with mitochondrial myopathy than in controls (P < 0.001 and P < 0.01, respectively). Patients diagnosed as having plasma carnitine insufficiency or deficiency were treated with L-carnitine (50-200 mg/kg per day in four daily doses). Muscle weakness improved in 19 of 20 patients, failure to thrive in 4 of 8, encephalopathy in 1 of 9, and cardiomyopathy in 8 of 8 patients. Plasma carnitine "insufficiency" provides an additional clue to the diagnosis of mitochondrial myopathy and an indication for L-carnitine therapy.

Categories: 1993, Carnitine, Carnitine deficiency, Myopathy, Mitochondrial myopathy, Acylcarnitines, Failure to thrive, Encephalopathy, Cardiomyopathy