Methylenetetrahydrofolate reductase deficiency

Methylenetetrahydrofolate reductase deficiency
Other namesMTHFR 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]

  1. ^ 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.
  2. ^ 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.
  3. ^ 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.