Folate and Cerebral folate deficiency syndromes

Posted by Chantel M. Contributed by US National Library of Medicine National Institutes of Health

In a study of "Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects" by Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R., posted in US National Library of Medicine National Institutes of Health, researchers found that Of the 2 main forms of cerebral folate deficiency identified, mild to moderate 5-MTHF deficiency was most commonly associated with disorders bearing no primary relation to folate metabolism, whereas profound 5-MTHF depletion was associated with specific mitochondrial disorders, metabolic and transporter defects, or cerebral degenerations. The results suggest that 5-MTHF can serve either as the hallmark of inborn disorders of folate transport and metabolism or, more frequently, as an indicator of neurologic dysfunction.