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- W208121016 abstract "Abstract Defects in cobalamin uptake or metabolism result in accumulation of methylmalonic acid and/or homocysteine. Hereditary intrinsic factor deficiency and Imerslund–Grasbeck syndrome affect intestinal absorption of the vitamin, and transcobalamin deficiency affects transport in the blood and cellular uptake. Inborn errors of cellular cobalamin metabolism result in methylmalonic aciduria ( cblA , cblB , cblD variant 2, mut ), homocystinuria ( cblD variant 1, cblE , cblG ) or combined methylmalonic aciduria and homocystinuria ( cblC , the classic form of cblD , cblF , cblJ and cblX ). Folate is required for a variety of one-carbon unit transfer reactions involved in de novo purine biosynthesis, conversion of deoxyuridylate to thymidylate, and remethylation of homocysteine to form methionine. Intestinal absorption of folate is impaired in hereditary folate malabsorption, while transfer across the blood–brain barrier is affected in cerebral folate deficiency. Four inborn errors affecting folate metabolism have been identified: glutamate formiminotransferase deficiency, severe methylenetetrahydrofolate reductase deficiency (MTHFR), dihydrofolate reductase deficiency and methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency." @default.
- W208121016 created "2016-06-24" @default.
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- W208121016 date "2015-01-01" @default.
- W208121016 modified "2023-09-27" @default.
- W208121016 title "Vitamins" @default.
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