Folate and Mitochondrial disease

Posted by Chantel M. Contributed by http://www.bh4.org/pdf/cazorla.pdf, Copyright © 2008 by AAN Enterprises, Inc.

In the study of "Mitochondrial diseases associated with cerebral folate deficiency"

Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT., posted in http://www.bh4.org/pdf/cazorla.pdf, researchers indicated that Half of our patients (14 out of 28) had CFD.However, 5 out of these 14 patients had KSS, a mitochondrial DNA deletion giving rise to pigmentary retinopathy, external ophthalmoplegia, ataxia, and aberrant cardiac conduction, which is a well recognized entity associated with low CSF folate levels......high dose of
folinic acid supplementation (from 1 to 3 mg/kg/ day) to correct low CSF 5-MTHF may be recommended in these disorders.