Recurrent pregnancy loss (RPL) defined as of two or more pregnancies is one the reasons why couples visit an ART clinic. 2-5% RPL cases show abnormal parental karyotype. Folic acid essential B vitamin involved in processes fundamental importance for cell division and embryo development. deficiency can have effect on many oocyte development, acquisition endometrial receptivity, implantation also...

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease...

A girl aged 7.5 years with deficiency of 5,10-methylenetetrahydrofolate reductase was treated from early infancy with betaine, 3-6 g daily. She has slight microcephaly, moderate developmental delay, and impaired vision but there have been no obvious signs of folate deficiency. From 4 years of age, she developed an unexplained extreme increase in appetite and weight. Recent magnetic resonance im...

OBJECTIVE Factor V / Factor II / Methylenetetrahydrofolate reductase, gene polymorphisms are closely associated with thrombophilia. Regional frequencies of these mutations may show a characteristic state. The aim of our study was to evaluate the frequency of commonly seen Factor V / Factor II / Methylenetetrahydrofolate reductase gene polymorphisms in Eastern Turkey. MATERIALS AND METHODS In ...

introduction: one factor known to cause thrombophilia in women with unexplained recurrent spontaneous abortion (rsa) is c677t polymorphism of methylenetetrahydrofolate reductase gene. this study aimed to determine the association between rsa and mthfr c677t polymorphism in iranian patients. methods: in this case-control study, 30 patients with previous history of two or more consecutive unexpla...

background: inherited thrombophilic gene polymorphisms have been related to the pathogenesis of venous thromboembolism and its outcomes. considering the scarcity of data on the frequency of the thrombophilic gene polymorphisms in iranian populations, the aim of this study was to assess such polymorphisms in healthy individuals. materials and methods: this cross-sectional study was performed on ...

Cobalamin deficiency in the newborn usually results from cobalamin deficiency in the mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present, accompanied by neurological deficits if the diagnosis is delayed. Most cases of spina bifida and other neural tube defects result from maternal folate and/or cobalamin insufficiency in the periconceptual period. Polymorphisms in a...