[Disorders of folate metabolism in the Kearns-Sayre syndrome].
In 1958, Kearns and Sayre described a syndrome characterized by external ophthalmoplegia, pigmentary retinopathy and cardiac conduction disorders. Subsequent publications have reported the presence of morphologic anomalies of muscle mitochondria and a spongiform encephalopathy. The study of folate metabolism in the present case demonstrated a marked drop in cerebrospinal fluid folate levels contrasting with normal plasma levels. The origin of this anomaly could be a disturbance in the active transport system of 5-methyl tetrahydrofolate (5 CH3 THF) in the choroidal plexuses. This compound is involved in brain metabolism at different levels: synthesis of purine and pyrimidine bases, serotonin metabolism, synthesis and methylation of membrane phospholipids. Therefore a deficit in brain 5 CH3 THF levels could be implicated in the pathophysiology of the spongiform encephalopathy. In the current state of knowledge a relation between folate transfer disorders and mitochondrial anomalies is difficult to establish.
D000328:Adult; D001812:Blood-Brain Barrier; D005492:Folic Acid / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism*; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000150:complications / Q000378:metabolism*; D008297:Male; D008659:Metabolic Diseases / Q000209:etiology; D009886:Ophthalmoplegia / Q000378:metabolism*
D005492:Folic Acid
Troubles du métabolisme des folates au cours d'un syndrome de Kearns et Sayre.