Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy.

Abstract

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 and LCAC 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.

• Authors: Y Campos, R Huertas, G Lorenzo, J Bautista, E Gutiérrez, M Aparicio, L Alesso, J Arenas
• Journal: Muscle & nerve (Muscle Nerve) Vol. 16 Issue 2 Pg. 150-3 (Feb 1993) ISSN: 0148-639X [Print] United States
• PMID: 8429838 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carnitine

Topics

• Adolescent
• Adult
• Carnitine (administration & dosage, blood, deficiency)
• Child
• Child, Preschool
• Female
• Humans
• Male
• Middle Aged
• Mitochondrial Myopathies (blood, complications, drug therapy)
• Treatment Outcome