Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid
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چکیده
منابع مشابه
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented with rapidly progressing encephalopathy and myopathy. An almost complete recovery was achieved by treatment with betaine.
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Methylenetetrahydrofolate reductase (MTHFR) is an enzyme which converts 5,10-methylene tetrahydrofolate (5,10-MnTHF) to 5-methyl tetrahydrofolate. A common C to T transition (C677T) in the MTHFR gene is reported to reduce the risk for colorectal cancer and acute lymphocytic leukemia in homozygotes (TTs). It is hypothesized that because TTs have reduced MTHFR activity, more 5,10-MnTHF is availab...
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ژورنال
عنوان ژورنال: Rinsho Shinkeigaku
سال: 2014
ISSN: 0009-918X,1882-0654
DOI: 10.5692/clinicalneurol.54.200