Methylenetetrahydrofolate reductase deficiency information
Medical condition
Methylenetetrahydrofolate reductase deficiency
Other names
MTHFR deficiency
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle.[1]
Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk.[2] Severe variants (from nonsense mutations) are rare.[3]
^Goyette, Philippe; Summer, J. S.; Milos, Renate; others (1994). "Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation". Nat Genet. 7 (2): 195–200. doi:10.1038/ng0694-195. PMID 7920641. S2CID 23877329.
^Dean L (2012). "Methylenetetrahydrofolate Reductase Deficiency". In Pratt VM, McLeod HL, Rubinstein WS, et al. (eds.). Medical Genetics Summaries. National Center for Biotechnology Information (NCBI). PMID 28520345. Bookshelf ID: NBK66131.
^Sibani, Sahar; Christensen, Benedicte; O'Ferrall, Erin; Saadi, Irfan; Hiou-Tim, Francois; Rosenblatt, David S.; Rozen, Rima (2000). "Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria". Human Mutation. 15 (3): 280–7. doi:10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I. PMID 10679944. S2CID 25475434.
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rule, and enzymes such as aldose reductase, glucose-6-phosphate dehydrogenase, and methylenetetrahydrofolatereductase can use both coenzymes in some species...
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from a deficiency in adenosine deaminase activity, which causes a buildup of dATP. These dATP molecules then inhibit ribonucleotide reductase, which prevents...
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Haber M, Norris MD (July 2009). "Reduced folate carrier and methylenetetrahydrofolatereductase gene polymorphisms: associations with clinical outcome in...
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