Retrospective approach to methylenetetrahydrofolate reductase mutations in children

Pediatric Neurology

Volumn 45, Issue 1, 2011, Pages 34-38

  Özer, Il ^a   Özetin, Mustafa ^b   Karaer, Hatice ^b   Kurt, Semiha G ^b   Ahin, Emsettin ^b  

^a GOZTEPE TRAINING AND RESEARCH HOSPITAL   (Turkey)

^b GAZIOSMANPASA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE;

ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; LABORATORY TEST; MALE; MEAN CORPUSCULAR VOLUME; NEURAL TUBE DEFECT; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANCY; PRIORITY JOURNAL; SCHOOL CHILD; THROMBOSIS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HUMANS; INFANT; MALE; MENTAL RETARDATION; METABOLISM, INBORN ERRORS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; NEURAL TUBE DEFECTS; PREGNANCY; PREVALENCE; RETROSPECTIVE STUDIES;

EID: 79959996693     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.01.019     Document Type: Article

References (42)

1. P.J. Bagley, and S. Jacob A common mutation in the metyhlenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells Med Sci 95 1998 13217 13220 (Pubitemid 28509551)
2. G. Homberger, M. Linnebank, and C. Winter Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene Eur J Hum Genet 8 2000 725 729
3. I. Weisberg, P. Tran, and B. Christensen A second genetic polymorphism in metyhlenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity Mol Genet Metab 64 1998 169 172 (Pubitemid 28453294)
4. L.L. Stern, P.J. Bagley, and I.H. Rosenberg Conversion of 5-formyltetrahydrofolic acid is unimpaired in folate-adequate persons homozygous for the C677T mutation in themethylenetetrahydrofolate reductase gene J Nutr 130 2000 2238 2242
5. H.S. Markus, N. Ali, R. Swaminathan, A. Sankaralingam, J. Molloy, and J. Powell A common polymorphism in the methylenetetrahydrofolat reductase gene, homocysteine, and ischemic cerebrovascular disease Stroke 28 1997 1739 1743 (Pubitemid 27391442)
6. S. Lopaciuk, K. Bykowska, and H. Kwiecinski Factor V Leiden, prothrombin gene G20210A variant, and methylenetetrahydrofolat reductase C677T genotype in young adults with ischemic stroke Clin Appl Thromb Hemost 7 2001 346 350 (Pubitemid 32988903)
7. S. Gulec, O. Aras, and E. Akar MTHFR gene polymorphism and risk of premature myocardial infarction Clin Cardiol 24 2001 281 284
8. P. Frosst, H.J. Blom, and R. Milos A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolat reductase Nat Genet 10 1995 111 113
9. B.O. Choi, N.K. Kimb, and S.H. Kimb Homozygous C677T mutation in the MTHFR gene as an independent risk factor for multiple small-artery occlusions Thromb Res 111 2003 39 44 (Pubitemid 37485924)
10. G. Bezold, M. Lange, and R. Peter Homozygous methylenetetrahydrofolate reductase C677T mutation and male nfertility N Engl J Med 344 2001 15
11. E. Trabetti Homocysteine, MTHFR gene polymorphisms, and cardio-cerebrovascular risk J Appl Genet 49 2008 267 282
12. T. Wolff, C. Takacs Witkop, T. Miller, and S.B. Syed Folic acid supplementation for the prevention of neural tube defects: An update of the evidence for the U.S. Preventive Services Task Force Ann Intern Med 150 2009 632 639
13. P. Stoll, J.C. Virchow, and M. Lommatzsch Postpartum venous thromboembolism N Engl J Med 358 2008 1037 1052
14. I.A. Greer The challenge of thrombophilia in maternal-fetal medicine N Engl J Med 6 342 2000 424 425 (Pubitemid 30084543)
15. C. Infante-Rvard, G.E. Rivard, and W.V. Yotov Absence of association of thrombophilia polymorphisms with intrauterine growth restriction N Engl J Med 347 2002 19 25 (Pubitemid 34728953)
16. M. Prengler, N. Sturt, S. Krywawych, R. Surtees, R. Liesner, and F. Kirkham Homozygous thermolabile variant of the methylenetetrahydrofolate reductase gene: A potential risk factor for hyperhomocysteinemia, CVD, and stroke in childhood Dev Med Child Neurol 43 2001 220
17. N. Akar, E. Akar, G. Deda, D. Sipahi, A. Orsal, and V. Factor 1691 G-A, prothrombin 20210 G-A, and methylenetetrahydrofolate reductase 677 C-T variants in Turkish children with cerebral infarct J Child Neurol 14 1999 749 751
18. N. Akar, E. Akar, D. Ozel, G. Deda, and T. Sipahi Common mutations at the homosysteine metabolism pathway and pediatric stroke Thromb Res 102 2001 115 120 (Pubitemid 32373220)
19. T.V. Pereira, M. Rudnicki, A.C. Pereira, M.S. Pombo-de-Oliveira, and R.F. Franco 5,10-methylenetetrahydrofolate reductase polymorphisms and acute lymphoblastic leukemia risk: A meta-analysis Cancer Epidemiol Biomarkers Prev 15 2006 1956 1963 (Pubitemid 44664274)
20. I.M. Van Beynum, M. Den Heijer, H.J. Blom, and L. Kapusta The MTHFR 677C→T polymorphism and the risk of congenital heart defects: A literature review and meta-analysis Q J Med 100 2007 743 753
21. R.R. Selzer, D.S. Rosenblatt, R. Laxova, and K. Hogan Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency N Engl J Med 349 2003 45 50 (Pubitemid 36765102)
22. R.W. Erbe, and R.J. Salis Severe methylenetetrahydrofolate reductase deficiency, methionine synthase, and nitrous oxide: A cautionary tale N Engl J Med 349 2003 1
23. J. Dean, Z. Robertson, and V. Reid Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRR Am J Med Genet [A] 143A 2007 2303 2311 (Pubitemid 47509646)
24. M. Huemer, B. Ausserer, and G. Graninger Hyperhomocysteinemia in children treated with antiepileptic drugs is normalized by folic acid supplementation Epilepsia 46 2005 1677 1683 (Pubitemid 44921945)
25. P. Bolufer, E. Barragan, M. Collado, J. Cervera, J.A. López, and M.A. Sanz Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression Leuk Res 30 2006 1471 1491 (Pubitemid 44573473)
26. R. Ionescu-Ittu, A.J. Marelli, A.S. Mackie, and L. Pilote Prevalence of severe congenital heart disease after folic acid fortification of grain products: Time trend analysis in Quebec, Canada Br Med J [Clin Res] 338 2009 1 8
27. S. Vurucu, E. Demirkaya, and M. Kul Evaluation of the relationship between C677T variants of methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in children receiving antiepileptic drug therapy Prog Neuropsychopharmacol Biol Psychiatry 32 2008 844 848 (Pubitemid 351312385)
28. V. Belcastro, G. Gaetano, and D. Italiano Antiepileptic drugs and MTHFR polymorphisms influence hyper-homocysteinemia recurrence in epileptic patients Epilepsia 48 2007 1990 1994 (Pubitemid 47537442)
29. J.C. Dean, Z. Robertson, and V. Reid A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: Possible role in pathogenesis Seizure 17 2008 269 275 (Pubitemid 351324159)
30. D. Caccamo, S. Condello, and G. Gorgone Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia Neuromol Med 6 2004 117 126 (Pubitemid 41265781)
31. F. Özmen, M. Özmen, N. Özalp, and N. Akar The prevalence of factor V (G1691A), MTHFR (C677T) and PT (G20210A) gene mutations in arterial thrombosis Turk J Trauma Emerg Surg 15 2009 113 119
32. F. Del Balzo, A. Spalice, M. Ruggieri, F. Greco, E. Properzi, and P. Iannetti Stroke in children: Inherited and acquired factors and age-related variations in the presentation of 48 p.ediatric patients Acta Paediatr 98 2009 1130 1136
33. G. Hay, C. Johnston, A. Whitelaw, K. Trygg, and H. Refsum Folate and cobalamin status in relation to breastfeeding and weaning in healthy infants Am J Clin Nutr 88 2008 105 114 (Pubitemid 351988689)
34. M. Födinger, O.F. Wagner, and W.H. Hörl Recent insights into the molecular genetics of the homocysteine metabolism Kidney Int 59 Suppl. 2001 238 242
35. L.A. Houghton, J. Yang, and D.L. O'Connor Unmetabolized folic acid and total folate concentrations in breast milk are unaffected by low-dose folate supplements Am J Clin Nutr 89 2009 216 220
36. S.H. Zeisel Importance of methyl donors during reproduction Am J Clin Nutr 89 2009 673 677
37. B. Wilcken Disorders of sulfur amino acid metabolism N. Blau, G.F. Hoffmann, J. Leonard, J. Clarke, Phsycian's guide to treatment and follow-up of metabolic diseases 2006 Springer-Verlag Berlin 105 115
38. A.G. Marson, A.M. Al-Kharusi, and M. Alwaidh The SANAD Study of effectiveness of valproate, lamotrigine, or topiramate for generalised and unclassifiable epilepsy: An unblinded randomised controlled trial Lancet 369 2007 1016 1026 (Pubitemid 46436125)
39. A.G. Marson, A.M. Al-Kharusi, and M. Alwaidh The SANAD Study of effectiveness of carbamazepine, gabapentin, lamotrigine, oxcarbazepine, or topiramate for treatment of partial epilepsy: An unblinded randomised controlled trial Lancet 369 2007 1000 1015 (Pubitemid 46436124)
40. G.E. Luzardo, R.A. Karlnoski, B. Williams, D. Mangar, and E.M. Camporesi Anesthetic management of a parturient with hyperhomocysteinemia Anesth Analg 106 2008 1833 1866
41. P.S. Myles, M.T.V. Chan, K. Leslie, P. Peyton, M. Paech, and A. Forbes Effect of nitrous oxide on plasma homocysteine and folate in patients undergoing major surgery Br J Anaesth 100 2008 780 786 (Pubitemid 351774329)
42. W.L. Nyhan Anesthesia and metabolic disease G.F. Hoffmann, J. Zschocke, W.L. Nyhan, Inherited metabolic diseases: A clinical approach 2010 Springer Heidelberg 63 65