Neonatal Sinovenous Thrombosis Associated With Homozygous Thermolabile Methylenetetrahydrofolate Reductase in Both Mother and Infant
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چکیده
منابع مشابه
Thermolabile methylenetetrahydrofolate reductase in coronary artery disease.
BACKGROUND Hyperhomocysteinemia, an independent and graded risk factor for coronary artery disease (CAD), may result from both environmental and hereditary factors. Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of methylenetetrahydrofolate to methyltetrahydrofolate, the methyl donor in the remethylation of homocysteine to methionine. A 677C-->T mutation in the MTHFR gene ...
متن کاملThermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.
Thermolability of 5,10-methylenetetrahydrofolate reductase (MTHFR) was examined as a possible cause of mild hyperhomocysteinemia in patients with premature vascular disease. Control subjects and vascular patients with mild hyperhomocysteinemia and with normohomocysteinemia were studied. The mean (+/- SD) specific MTHFR activity in lymphocytes of 22 control subjects was 15.6 (+/- 4.7) nmol CH2O/...
متن کاملcombined choroidal neovascularization and hypopituitarism in a patient with homozygous mutation in methylenetetrahydrofolate reductase gene
we report a case of choroidal neovascularization (cnv) secondary to methylenetetrahydrofolate reductase (mthfr) gene mutation in a 20-year-old male patient with hypopituitarism. treatment with three consecutive injections of intravitreal ranibizumab (anti-vascular endothelial growth factor) resulted in significant improvement of the patient’s vision and the appearance of the macula. a search ...
متن کاملPathogenicity of thermolabile methylenetetrahydrofolate reductase for vascular dementia.
Although the major biochemical abnormality due to methylenetetrahydrofolate reductase (MTHFR) deficiency is hyperhomocyst(e)inemia, its pathogenicity appears to involve more than homocysteine toxicity. In patients with severe MTHFR deficiency, a metabolite(s) other than hyperhomocyst(e)inemia also appears to be associated with its clinical manifestation in cerebrovascular disease. To elucidate ...
متن کاملChanges in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects.
Periconceptional folic acid (pteroylglutamic acid) supplementation or the fortification of staple foods with folic acid have been shown to reduce the risk for pregnancies with neural tube defects (NTDs). However, mechanistic link(s) between this increased intake of folic acid and NTD prevention remains unclear. Homozygous or heterozygous variants of the thermolabile 5,10-methylenetetrahydrofola...
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2002
ISSN: 0743-8346,1476-5543
DOI: 10.1038/sj.jp.7210615