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dc.contributor.authorPitt, Silvia Brustolinpt_BR
dc.contributor.authorGiugliani, Robertopt_BR
dc.contributor.authorFelix, Temis Mariapt_BR
dc.date.accessioned2010-06-22T04:18:26Zpt_BR
dc.date.issued2010pt_BR
dc.identifier.issn0100-879Xpt_BR
dc.identifier.urihttp://hdl.handle.net/10183/24012pt_BR
dc.description.abstractHomocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice, especially common variants of the MTHFR gene, 677C>T and 1298A>C. We also discuss the management of hyperhomocysteinemia with folic acid supplementation and fortification of folic acid and the impact of a decrease in the prevalence of congenital anomalies and a decline in the incidence of stroke mortality.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofBrazilian journal of medical and biological research = Revista brasileira de pesquisas médicas e biológicas. Ribeirao Preto. Vol. 43, n. 1 (jan. 2010), p. 1-7pt_BR
dc.rightsOpen Accessen
dc.subjectHomocisteínapt_BR
dc.subjectHomocysteineen
dc.subjectHyperhomocysteinemiaen
dc.subjectHiper-homocisteinemiapt_BR
dc.subjectPolimorfismo de nucleotídeo únicopt_BR
dc.subjectFolate metabolismen
dc.subjectSingle nucleotide polymorphismen
dc.subjectPredisposição genética para doençapt_BR
dc.subjectSusceptibility genesen
dc.titleGenetics of homocysteine metabolism and associated disorderspt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000740339pt_BR
dc.type.originNacionalpt_BR


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