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Artículos de revistas sobre el tema "Methylenetetrahydrofolate Reductase (NADPH2) – deficiency"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 15 de febrero de 2022

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1

Suormala, Terttu, Gertraud Gamse y Brian Fowler. "5,10-Methylenetetrahydrofolate Reductase (MTHFR) Assay in the Forward Direction: Residual Activity in MTHFR Deficiency". Clinical Chemistry 48, n.º 6 (1 de junio de 2002): 835–43. http://dx.doi.org/10.1093/clinchem/48.6.835.

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Abstract Background: Assay of methylenetetrahydrofolate reductase (MTHFR), a key enzyme in homocysteine metabolism, is important for the study of severe and mild deficiency states. Because the conventional assay measures in the reverse direction, lacks sensitivity, and uses nonphysiologic substrates, the exact measurement and characterization of residual activity in easily accessible tissues have been difficult. Methods: To measure MTHFR in the physiologic direction, we determined the NADPH-dependent conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate by use of HPLC with fluorescence detection. Results: MTHFR activity in control fibroblast in the presence of FAD was maximal between pH 6.3 and 6.9, increased linearly up to 40 min and 80 μg protein/assay, and showed Kms of 30 μmol/L for NADPH and 26 μmol/L for 5,10-methylenetetrahydrofolate. Intraassay variation (CV) was 10%, interassay variation was 7.2%, and variation among 10 subcultures of the same cell line was 18%. Mean (SD) control activity was 431 (150) μU/mg protein (range, 242–910; n = 75), which is 2.5-fold higher than that with the reverse assay. After heat treatment (46 °C for 5 min), the activity showed a trimodal distribution corresponding to the 677TT (thermolabile; 15%), 677CT (35%), and 677CC (51%) genotypes. We found clearly measurable activity ranging from 2.6% to 25.6% of the mean control value in 15 patients with MTHFR deficiency, including 11 cell lines with zero activity in the reverse assay. Ten patients had complete enzyme deficiency. Conclusion: This assay allows reliable determination of residual activity in mutant fibroblasts and characterization of kinetic parameters for natural substrates.
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2

Bates, C. J. y N. J. Fuller. "The effect of riboflavin deficiency on methylenetetrahydrofolate reductase (NADPH)(EC 1.5.1.20) and folate metabolism in the rat". British Journal of Nutrition 55, n.º 2 (marzo de 1986): 455–64. http://dx.doi.org/10.1079/bjn19860051.

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1. Riboflavin deficiency at two levels of severity was produced in weanling rats by feeding deficient diets for 6 weeks and using neck collars to prevent coprophagy. The severity of deficiency was monitored by growth, liver flavin levels and the activation coefficient of erythrocyte glutathione oxidoreductase (NAD(P)H) (EC 1. 6. 4. 2 ) Control groups, receiving the same diet with ample added riboflavin, were fed either ad lib., or were pair-fed with the deficient animals.2. The hepatic flavoenzyme, methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1.20), was very markedly affected by severe riboflavin deficiency and was significantly, but less markedly, affected by the intermediate level of deficiency. This reduction in activity was due primarily to the direct effect of the diminished supply of riboflavin, and occurred to only a small extent as a result of inanition, demonstrated by a moderate reduction in activity in the more severely food-restricted of the two pair-fed groups. Since the enzyme is assayed in the presence of its flavin cofactor, FAD, it clearly cannot be reactivated in vitro, as some other depleted flavoenzymes can. The discriminatory ability in distinguishing between severe and moderate riboflavin deficiency in vivo confers some potential advantages on this oxidoreductase as a possible index of riboflavin status.3. The hepatic activity of another key folate-metabolizing enzyme, dihydrofolate reductase (EC 1.5.1.3), was not diminished by riboflavin deficiency in the present study.4. The ratio, labelled 5-methyltetrahydrofolic acid: other labelled compounds derived from intraperitoneally injected pteroylglutamic acid in extracts of hepatic tissue was significantly reduced in the riboflavin-deficient groups, indicating the possibility of an effect of riboflavin deficiency on folate metabolism in vivo.
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3

Müller, J., K. Murawski, Z. Szymanowska, A. Koziorowski y L. Radwan. "Hereditary Deficiency of NADPH2-Methaemoglobin Reductase". Acta Medica Scandinavica 173, n.º 2 (24 de abril de 2009): 243–47. http://dx.doi.org/10.1111/j.0954-6820.1963.tb16529.x.

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4

Lossos, Alexander, Omri Teltsh, Tsipi Milman, Vardiella Meiner, Rima Rozen, Daniel Leclerc, Bernd C. Schwahn et al. "Severe Methylenetetrahydrofolate Reductase Deficiency". JAMA Neurology 71, n.º 7 (1 de julio de 2014): 901. http://dx.doi.org/10.1001/jamaneurol.2014.116.

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5

Vieira, Daniela, Cristina Florindo, Isabel Tavares de Almeida y Maria Carmo Macário. "Adult-onset methylenetetrahydrofolate reductase deficiency". BMJ Case Reports 13, n.º 3 (marzo de 2020): e232241. http://dx.doi.org/10.1136/bcr-2019-232241.

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Severe hyperhomocysteinemia (>100 µmol/L) is often associated with inborn errors of homocysteine metabolism. It manifests typically in neonatal period with developmental delay, hypotonia, feeding problems or failure to thrive. Adult-onset forms are rare and include less severe manifestations. Early diagnosis is crucial because effective treatment is available. A 23-year-old man presented with a 3-week history of speech and gait impairment, and numbness in lower limbs. Neurological examination revealed dysarthria, decreased vibratory sensation in both legs and appendicular and gait ataxia. Brain MRI revealed T2-hyperintense symmetric white matter lesions and cortical atrophy. He had folate and vitamin B12 deficiency, a markedly elevated serum homocysteine and low methionine. Despite vitamin supplementation homocysteine levels remained elevated. Molecular studies of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene revealed a new pathogenic mutation (c.1003C>T (p.Arg335Cys)) and a polymorphism (C677T (p.Ala222Val)) associated with hyperhomocysteinemia, both in homozygosity. The patient started betaine with clinical and biochemical improvement.
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6

Shay, Hamilton, Robert J. Frumento y Alexandra Bastien. "General anesthesia and methylenetetrahydrofolate reductase deficiency". Journal of Anesthesia 21, n.º 4 (1 de noviembre de 2007): 493–96. http://dx.doi.org/10.1007/s00540-007-0544-8.

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7

Millichap, J. Gordon. "Nitrous Oxide Toxicity with Methylenetetrahydrofolate Reductase Deficiency". Pediatric Neurology Briefs 17, n.º 7 (1 de julio de 2003): 53. http://dx.doi.org/10.15844/pedneurbriefs-17-7-7.

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8

Millichap, J. Gordon y John J. Millichap. "5,10-Methylenetetrahydrofolate Reductase Deficiency and Myoclonic Epilepsy". Pediatric Neurology Briefs 28, n.º 9 (1 de septiembre de 2014): 67. http://dx.doi.org/10.15844/pedneurbriefs-28-9-3.

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9

Fattal-Valevski, Aviva, Haim Bassan, Stanley H. Korman, Tally Lerman-Sagie, Alisa Gutman y Shaul Harel. "Methylenetetrahydrofolate Reductase Deficiency: Importance of Early Diagnosis". Journal of Child Neurology 15, n.º 8 (agosto de 2000): 539–43. http://dx.doi.org/10.1177/088307380001500808.

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10

Prasad, Asuri N., Charles A. Rupar y Chitra Prasad. "Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy". Brain and Development 33, n.º 9 (octubre de 2011): 758–69. http://dx.doi.org/10.1016/j.braindev.2011.05.014.

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11

Rozen, R. "Annotation Molecular genetics of methylenetetrahydrofolate reductase deficiency". Journal of Inherited Metabolic Disease 19, n.º 5 (septiembre de 1996): 589–94. http://dx.doi.org/10.1007/bf01799831.

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12

Crushell, Ellen, Daire O'Leary, Alan D. Irvine, Anne O'Shea, Philip D. Mayne y William Reardon. "Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash". American Journal of Medical Genetics Part A 158A, n.º 9 (27 de julio de 2012): 2254–57. http://dx.doi.org/10.1002/ajmg.a.35479.

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13

Marquet, J., B. Chadefaux, J. P. Bonnefont, J. M. Saudubray y J. Zittoun. "Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies". Prenatal Diagnosis 14, n.º 1 (enero de 1994): 29–33. http://dx.doi.org/10.1002/pd.1970140106.

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14

Brouwer, O. F., W. Onkenhout, P. M. Edelbroek, J. F. M. de Kom, F. A. de Wolff y A. C. B. Peters. "Increased neurotoxicity of arsenic in methylenetetrahydrofolate reductase deficiency". Clinical Neurology and Neurosurgery 94, n.º 4 (diciembre de 1992): 307–10. http://dx.doi.org/10.1016/0303-8467(92)90179-7.

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15

Aljassim, Nada, Majid Alfadhel, Marwan Nashabat y Wafa Eyaid. "Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency". Molecular Genetics and Metabolism Reports 25 (diciembre de 2020): 100644. http://dx.doi.org/10.1016/j.ymgmr.2020.100644.

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16

Rozen, Rima. "Genetic Predisposition to Hyperhomocysteinemia: Deficiency of Methylenetetrahydrofolate Reductase (MTHFR)". Thrombosis and Haemostasis 78, n.º 01 (1997): 523–26. http://dx.doi.org/10.1055/s-0038-1657581.

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17

Ronge, E. y B. Kjellman. "Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency." Archives of Disease in Childhood 74, n.º 3 (1 de marzo de 1996): 239–41. http://dx.doi.org/10.1136/adc.74.3.239.

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18

Fodil-Cornu, N., N. Kozij, Q. Wu, R. Rozen y S. M. Vidal. "Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection". Genes & Immunity 10, n.º 7 (16 de julio de 2009): 662–66. http://dx.doi.org/10.1038/gene.2009.50.

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19

Froese, D. Sean, Martina Huemer, Terttu Suormala, Patricie Burda, David Coelho, Jean-Louis Guéant, Markus A. Landolt, Viktor Kožich, Brian Fowler y Matthias R. Baumgartner. "Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency". Human Mutation 37, n.º 5 (18 de marzo de 2016): 427–38. http://dx.doi.org/10.1002/humu.22970.

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20

Khosa, Shaweta, David Girard, Gurveer S. Khosa, Soma S. Srivastava y Shri K. Mishra. "A case of methylenetetrahydrofolate reductase deficiency enzyme deficiency carrying a novel mutation". Neurology and Clinical Neuroscience 7, n.º 5 (2 de abril de 2019): 276–78. http://dx.doi.org/10.1111/ncn3.12295.

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21

Yuasa, Naoki, Tatsuya Ishikawa, Kentaro Tokuoka, Yasuhisa Kitagawa y Shigeharu Takagi. "A case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency". Rinsho Shinkeigaku 48, n.º 6 (2008): 422–25. http://dx.doi.org/10.5692/clinicalneurol.48.422.

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22

Strauss, Kevin A., D. Holmes Morton, Erik G. Puffenberger, Christine Hendrickson, Donna L. Robinson, Conrad Wagner, Sally P. Stabler et al. "Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency". Molecular Genetics and Metabolism 91, n.º 2 (junio de 2007): 165–75. http://dx.doi.org/10.1016/j.ymgme.2007.02.012.

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23

Hyland, K., I. Smith, T. Bottiglieri, J. Perry, U. Wendel, P. T. Clayton y J. V. Leonard. "Demyelination and decreased S-adenosylmethionine in 5.10-methylenetetrahydrofolate reductase deficiency". Neurology 38, n.º 3 (1 de marzo de 1988): 459. http://dx.doi.org/10.1212/wnl.38.3.459.

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24

Haworth, J. C., L. A. Dilling, R. A. H. Surtees, L. E. Seargeant, H. Lue-Shing, B. A. Cooper y D. S. Rosenblatt. "Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers". American Journal of Medical Genetics 45, n.º 5 (1 de marzo de 1993): 572–76. http://dx.doi.org/10.1002/ajmg.1320450510.

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25

Baethmann, M., U. Wendel, G. F. Hoffmann, G. Göhlich-Ratmann, B. Kleinlein, P. Seiffert, H. Blom y T. Voit. "Hydrocephalus Internus in Two Patients with 5,10-Methylenetetrahydrofolate Reductase Deficiency". Neuropediatrics 31, n.º 6 (diciembre de 2000): 314–17. http://dx.doi.org/10.1055/s-2000-12947.

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26

Goyette, P., D. Rosenblatt y R. Rozen. "Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene". Journal of Inherited Metabolic Disease 21, n.º 6 (agosto de 1998): 690–91. http://dx.doi.org/10.1023/a:1005457206323.

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27

Kluijtmans, Leo AJ, Udo Wendel, Erik MB Stevens, Lambert PWJ van den Heuvel, Frans JM Trijbels y Henk J. Blom. "Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency". European Journal of Human Genetics 6, n.º 3 (mayo de 1998): 257–65. http://dx.doi.org/10.1038/sj.ejhg.5200182.

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28

SCHWAHN, Bernd C., Maurice D. LARYEA, Zhoutao CHEN, Stepan MELNYK, Igor POGRIBNY, Timothy GARROW, S. Jill JAMES y Rima ROZEN. "Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency". Biochemical Journal 382, n.º 3 (7 de septiembre de 2004): 831–40. http://dx.doi.org/10.1042/bj20030822.

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MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized in homocysteine remethylation to methionine. A severe deficiency of MTHFR results in hyperhomocysteinaemia and homocystinuria. Betaine supplementation has proven effective in ameliorating the biochemical abnormalities and the clinical course in patients with this deficiency. Mice with a complete knockout of MTHFR serve as a good animal model for homocystinuria; early postnatal death of these mice is common, as with some neonates with low residual MTHFR activity. We attempted to rescue Mthfr−/− mice from postnatal death by betaine supplementation to their mothers throughout pregnancy and lactation. Betaine decreased the mortality of Mthfr−/− mice from 83% to 26% and significantly improved somatic development from postnatal day 1, compared with Mthfr−/− mice from unsupplemented dams. Biochemical evaluations demonstrated higher availability of betaine in suckling pups, decreased accumulation of homocysteine, and decreased flux through the trans-sulphuration pathway in liver and brain of Mthfr−/− pups from betaine-supplemented dams. We observed disturbances in proliferation and differentiation in the cerebellum and hippocampus in the knockout mice; these changes were ameliorated by betaine supplementation. The dramatic effects of betaine on survival and growth, and the partial reversibility of the biochemical and developmental anomalies in the brains of MTHFR-deficient mice, emphasize an important role for choline and betaine depletion in the pathogenesis of homocystinuria due to MTHFR deficiency.
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29

LARYEA, Maurice D., Bernd C. SCHWAHN, Zhoutao CHEN, Stepan MELNYK, Igor POGRIBNY, Timothy GARROW, S. Jill JAMES y Rima ROZEN. "Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency". Biochemical Journal 382, n.º 3 (15 de septiembre de 2004): 831. http://dx.doi.org/10.1042/bj20040822.

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30

Holme, E., B. Kjellman y E. Ronge. "Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency." Archives of Disease in Childhood 64, n.º 7 (1 de julio de 1989): 1061–64. http://dx.doi.org/10.1136/adc.64.7.1061.

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31

Tsuji, Megumi, Atsushi Takagi, Kiyoko Sameshima, Mizue Iai, Sumimasa Yamashita, Hiroko Shinbo, Noritaka Furuya, Kenji Kurosawa y Hitoshi Osaka. "5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant". Brain and Development 33, n.º 6 (junio de 2011): 521–24. http://dx.doi.org/10.1016/j.braindev.2010.08.013.

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32

Munoz, Tatiana, Jinesh Patel, Ramses Badilla-Porras, Jonathan Kronick y Saadet Mercimek-Mahmutoglu. "Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency". Brain and Development 37, n.º 1 (enero de 2015): 168–70. http://dx.doi.org/10.1016/j.braindev.2014.03.003.

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33

Mikael, Leonie G., Xiao-Ling Wang, Qing Wu, Hua Jiang, Kenneth N. Maclean y Rima Rozen. "Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency". Molecular Genetics and Metabolism 98, n.º 1-2 (octubre de 2009): 187–94. http://dx.doi.org/10.1016/j.ymgme.2009.05.011.

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34

Pasquier, F., F. Lebert, H. Petit, J. Zittoun y J. Marquet. "Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult." Journal of Neurology, Neurosurgery & Psychiatry 57, n.º 6 (1 de junio de 1994): 765–66. http://dx.doi.org/10.1136/jnnp.57.6.765.

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35

Bishop, Lisa, Richard Kanoff, Lawrence Charnas, Charles Krenzel, Susan A. Berry y Lisa A. Schimmenti. "Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: A Case Report of Nonclassical Homocystinuria". Journal of Child Neurology 23, n.º 7 (julio de 2008): 823–28. http://dx.doi.org/10.1177/0883073808315410.

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36

Leclerc, Daniel, Karen E. Christensen, Olivia Cauvi, Ethan Yang, Frédéric Fournelle, Renata H. Bahous, Olga V. Malysheva et al. "Mild Methylenetetrahydrofolate Reductase Deficiency Alters Inflammatory and Lipid Pathways in Liver". Molecular Nutrition & Food Research 63, n.º 3 (23 de noviembre de 2018): 1801001. http://dx.doi.org/10.1002/mnfr.201801001.

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37

Santos, Christiano dos Santos e. y Bernadette E. Grayson. "Methylenetetrahydrofolate Reductase deficiency and anesthesia: importance of a detailed preoperative evaluation". Brazilian Journal of Anesthesiology (English Edition) 69, n.º 6 (noviembre de 2019): 637–38. http://dx.doi.org/10.1016/j.bjane.2019.05.001.

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38

Lawrance, A. K., L. Deng y R. Rozen. "Methylenetetrahydrofolate reductase deficiency and low dietary folate reduce tumorigenesis in Apcmin/+ mice". Gut 58, n.º 6 (27 de enero de 2009): 805–11. http://dx.doi.org/10.1136/gut.2007.143107.

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Cappuccio, G., C. Cozzolino, G. Frisso, R. Romanelli, G. Parenti, A. D'Amico, B. Carotenuto, F. Salvatore y E. Del Giudice. "Pearls & Oy-sters: Familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency". Neurology 83, n.º 3 (14 de julio de 2014): e41-e44. http://dx.doi.org/10.1212/wnl.0000000000000591.

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40

Christensen, Benedicte, Philippe Goyette, Ayman Al-Hendy, David S. Rosenblatt y Rima Rozen. "NEW MUTATION IDENTIFIED IN FOUR UNRELATED PATIENTS WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY. † 843". Pediatric Research 39 (abril de 1996): 143. http://dx.doi.org/10.1203/00006450-199604001-00865.

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41

Erbe, Richard W. y Robbert J. Salis. "Severe Methylenetetrahydrofolate Reductase Deficiency, Methionine Synthase, and Nitrous Oxide — A Cautionary Tale". New England Journal of Medicine 349, n.º 1 (3 de julio de 2003): 5–6. http://dx.doi.org/10.1056/nejmp030093.

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42

Arn, Pamela H., Charles A. Williams, Roberto T. Zori, Daniel J. Driscoll y David S. Rosenblatt. "Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome". American Journal of Medical Genetics 77, n.º 3 (18 de mayo de 1998): 198–200. http://dx.doi.org/10.1002/(sici)1096-8628(19980518)77:3<198::aid-ajmg4>3.0.co;2-m.

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43

Schwahn, Bernd C., Zhoutao Chen, Maurice D. Laryea, Udo Wendel, Suzanne Lussier‐Cacan, Jacques Genest, Mei‐Heng Mar et al. "Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency". FASEB Journal 17, n.º 3 (22 de enero de 2003): 1–25. http://dx.doi.org/10.1096/fj.02-0456fje.

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44

Haan, E. A., J. G. Rogers, G. P. Lewis y P. B. Rowe. "5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case". Journal of Inherited Metabolic Disease 8, n.º 2 (junio de 1985): 53–57. http://dx.doi.org/10.1007/bf01801662.

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45

Sullivan, Kevin, Sanford Kempin, Zujun Li, William Cook y Steve Marionneaux. "Spectrum of Thromboses in Patients with Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms: Continuing Controversy." Blood 110, n.º 11 (16 de noviembre de 2007): 3979. http://dx.doi.org/10.1182/blood.v110.11.3979.3979.

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Abstract Thromboembolic disease is common with an annual incidence of 1–3/1000 individuals. Both acquired and genetic risk factors are responsible. A risk factor for thrombosis can now be identified in over 80 percent of patients. Fifty percent of thrombotic events in patients with inherited thrombophilia are associated with an acquired risk factor. Patients with multiple inherited risk factors are at a greater risk. Two common variations of the MTHFR gene (677CàT and 1298AàC) result in amino acid substitutions and enhanced thermolability of the enzyme. The latter, in the presence of folic acid deficiency, results in elevated homocysteine levels. Thrombosis has been observed in these patients, but there is still controversy whether there is a direct association (Bezemer I, et al. Arch Int Med167, 497–501, 2007; den Heijer M et al. J Thromb Haemost3:292–299, 2005). In the present study, we describe the spectrum of thromboembolic disease observed in 39 patients with a variety of MTHFR polymorphisms referred to a specialty center with a personal or family history of thromboses or obstetrical loss, 18 of these patients having no other risk factor other than MTHFR polymorphisms. These polymorphisms include 18 heterozygotes (11 with 677CàT; 7 with 1298AàC), 9 homozygotes (5 with 677CàT; 4 with 1298AàC) and 12 compound heterozygotes (677CàT and 1298AàC). Concomitant risk factors were found in twenty-one patients (factor V Leiden - 6; prothrombin G20210A - 3; protein C deficiency - 1; protein S deficiency - 1; PAI-1 polymorphism - 2; activated protein C resistance - 2; antiphospholipid antibody syndrome - 5; malignancy - 3; coronary artery disease - 1; hemolytic anemia - 1; factor VIII deficiency - 1). Types of thromboembolic manifestations observed in the 39 patients include venous thromboembolism (22), obstetrical loss (7), arterial thrombosis (3), myocardial infarction (3), ischemic CNS lesions (2), and palpable purpura (1), for a total of 38 manifestations. Seven of the patients had a family history of thromboembolic disease. Patients with only MTHFR polymorphisms suffered 16 types of thromboembolic events (16/38=42%). Our observations suggest that MTHFR polymorphisms alone do play a role in clinically relevant thrombotic disease and probably increase the incidence of these diseases in patients harboring other causes of thrombophilia. Therefore, continuing surveillance for this polymorphism as part of a clinical thrombophilia assessment is recommended, particularly if homocysteine levels are elevated.
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Ben-Shachar, Shay, Tal Zvi, Arndt Rolfs, Andrea Breda Klobus, Yuval Yaron, Anat Bar-Shira y Avi Orr-Urtreger. "A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews". Molecular Genetics and Metabolism 107, n.º 3 (noviembre de 2012): 608–10. http://dx.doi.org/10.1016/j.ymgme.2012.08.011.

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47

Tonetti, Carole, Marc Ruivard, Virginie Rieu, Jacqueline Zittoun y Stephane Giraudier. "Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult". British Journal of Haematology 119, n.º 2 (30 de octubre de 2002): 397–99. http://dx.doi.org/10.1046/j.1365-2141.2002.03876.x.

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48

Chen, Zhoutao, Bing Ge, Thomas J. Hudson y Rima Rozen. "Microarray analysis of brain RNA in mice with methylenetetrahydrofolate reductase deficiency and hyperhomocysteinemia". Gene Expression Patterns 1, n.º 2 (enero de 2002): 89–93. http://dx.doi.org/10.1016/s1567-133x(01)00018-7.

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49

Morel, Chantal F., Patrick Scott, Ernst Christensen, David S. Rosenblatt y Rima Rozen. "Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay". Molecular Genetics and Metabolism 85, n.º 2 (junio de 2005): 115–20. http://dx.doi.org/10.1016/j.ymgme.2005.03.001.

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50

Selzer, Rebecca R., David S. Rosenblatt, Renata Laxova y Kirk Hogan. "Adverse Effect of Nitrous Oxide in a Child with 5,10-Methylenetetrahydrofolate Reductase Deficiency". New England Journal of Medicine 349, n.º 1 (3 de julio de 2003): 45–50. http://dx.doi.org/10.1056/nejmoa021867.

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