Article (Scientific journals)
Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency
RAMAEKERS, Vincent; Wels, J.; Sequeira, J. M. et al.
2007In Neuropediatrics, 38 (4), p. 184-187
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Keywords :
Folate; Methyltetrahydrofolate; Mitochondrial disorder; Treatment; Kearns Sayre syndrome; Child; Folic Acid; Humans; Magnetic Resonance Imaging; Male; Mitochondrial Encephalomyopathies; Tetrahydrofolates; Vitamin B Complex
Abstract :
[en] Folate transport to the brain depends on ATP-driven folate receptor-mediated transport across choroid plexus epithelial cells. Failure of ATP production in Kearns-Sayre syndrome syndrome provides one explanation for the finding of low spinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) levels in this condition. Therefore, we suspect the presence of reduced folate transport across the blood-spinal fluid barrier in other mitochondrial encephalopathies. In the present patient with mitochondrial complex I encephalomyopathy a low 5-methyltetrahydrofolate level was found in the CSF. Serum folate receptor autoantibodies were negative and could not explain the low spinal fluid folate levels. The epileptic seizures did not respond to primidone monotherapy, but addition of ubiquinone-10 and radical scavengers reduced seizure frequency. Add-on treatment with folinic acid led to partial clinical improvement including full control of epilepsy, followed by marked recovery from demyelination of the brainstem, thalamus, basal ganglia and white matter. Cerebral folate deficiency is not only present in Kearns-Sayre syndrome but may also be secondary to the failure of mitochondrial ATP production in other mitochondrial encephalopathies. Treatment with folinic acid in addition to supplementation with radical scavengers and cofactors of deficient respiratory enzymes can result in partial clinical improvement and reversal of abnormal myelination patterns on neuro-imaging. © Georg Thieme Verlag KG Stuttgart.
Disciplines :
Pediatrics
Neurology
Author, co-author :
RAMAEKERS, Vincent ;  Division of Pediatric Neurology, University Hospital, RWTH, Aachen, Germany
Wels, J.;  Institute of Neuropathology, University Hospital, RWTH Aachen, Germany
Sequeira, J. M.;  Department of Medicine and Cell Biology, SUNY-Downstate Medical Center, Brooklyn, NY, United States
Quadros, E. V.;  Department of Medicine and Cell Biology, SUNY-Downstate Medical Center, Brooklyn, NY, United States
Blau, N.;  Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland
Language :
English
Title :
Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency
Publication date :
August 2007
Journal title :
Neuropediatrics
ISSN :
0174-304X
eISSN :
1439-1899
Publisher :
Georg Thieme Verlag, Germany
Volume :
38
Issue :
4
Pages :
184-187
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 06 June 2014

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