Nöral tüp defekti etkilenen çocuklarda MTHFR enziminin kantitatif değerlendirilmesi

Abstract

Background: Neural tube defect (NTD) pathogenesis is still not understanding well and controversial. Maternal Methylene Tetrahydrofolate Reductase (MTHFR) is an important enzyme controlling levels of methionine, homocysteine, and folic acid in the cycle of folate metabolism which has a considerable relationship with NTD development, while the role fetal MTHFR enzyme was not known till now. Objective: To evaluate the serum level of MTHFR in NTDs affected children to search if it is related to the defect pathogenesis. Patients and methods: A cohort study was performed during 2017- 2018 in Al- Batool hospital. A newly delivered NTD 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 for statistical 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 healthy and NTD affected infants, generally, for cases they were insignificantly higher than that of control group (p value= 0.115); they were unrelated with the defect whether cranial or spinal, p value (0.264 ). Enzyme level significantly higher in NTD affected infants whom mothers aged more 35 yrs old (p value= 0.00) and insignificantly higher in babies whom mothers received folic acid than others. Conclusion: It was found no role of fetal enzyme level in pathogenesis of NTD, in contrast, there was high MTHFR level in affected children, which might reflect a compensatory mechanism.