pediatr pract res Pediatric Practice and Research 2147-6470 Resul YILMAZ Health Care Administration Sağlık Kurumları Yönetimi Quantitative Evaluation of MTHFR Enzyme in Neural Tube Defect Affected Children Nöral tüp defekti etkilenen çocuklarda MTHFR enziminin kantitatif değerlendirilmesi https://orcid.org/0000-0002-8924-4946 Shukur Mahmood Najdat 12 31 2019 7 3 19 24 09 03 2019 12 18 2019 Copyright © 2013, Pediatric Practice and Research 2013 Pediatric Practice and Research

Background: Neuraltube defect (NTD) pathogenesis is still not understanding well andcontroversial. Maternal Methylene Tetrahydrofolate Reductase (MTHFR) is animportant enzyme controlling levels of methionine, homocysteine, and folic acidin the cycle of folate metabolism which has a considerable relationship withNTD development, while the role fetal MTHFR enzyme was not known till now. Objective: To evaluate the serum level of MTHFR in NTDs affected children tosearch if it is related to the defect pathogenesis.Patients and methods: A cohortstudy was performed during 2017- 2018 in Al- Batool hospital. A newly deliveredNTD affected babies were included, serum level of MTHFR was measured by ELISA,results were compared to that of healthy neonates. SPSS version 22 was used forstatistical analysis.Results: Forty six infants with NTD were included, spina bifida(n=39, 84.8%) and cranial NTD (7, 15.2%), females:males ratio was 1:1.35. MTHFR enzyme readings showed wide range in both healthyand NTD affected infants, generally, for cases they were insignificantly higherthan that of control group (p value= 0.115); theywere unrelated with the defect whether cranial or spinal, p value (0.264 ). Enzyme level significantly higher in NTD affected infants whom mothers aged more35 yrs old (p value= 0.00) and insignificantly higher in babies whom mothers receivedfolic acid than others.Conclusion: It was found no role of fetal enzyme level inpathogenesis of NTD, in contrast, there was high MTHFR level in affected children, which might reflect a compensatorymechanism.

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