2001, Number 4
Evaluación clínica, bioquímica y molecular de una familia con recurrencia de defectos del tubo neural
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ABSTRACTA family is presented it would originate of the south of Nuevo León with recurrence of neural tube defects (NTD) whose products survivors have been achieved after the treatment pre-conceptional with folate. After the clinical, biochemical and molecular evaluations, it is found that the members present heterocigocity for the mutation MTHFR 677T and that the mother and the daughter are compound heterozygotes 677C/677T-1298A/1298C. The levels of red cells folates and plasmatic they are normal and the father only presents slightly increased levels of homocystenaemia. These results suggest an interaction among genetic and nutritional factors previously implied additionally in the pathogenesis of the NTD that could be associate to the recurrrrence of this defect.
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