DETECTION OF HOMOZYGOTES AND HETEROZYGOTES WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY

  • 1 January 1977
    • journal article
    • research article
    • Vol. 90  (2) , 283-288
Abstract
Specific enzyme assay is required for the diagnosis of homocystinuria due to methylenetetrahydrofolate reductase deficiency. A rapid and accurate method was developed using pure peripheral lymphocyte preparations. Triplicate determinations showed highly reproducible results. With the use of the mean of triplicate determinations in the presence of FAD, there was complete segregation among the homozygotes, heterozygotes and normal subjects. This method provides a rapid diagnosis in affected subjects and a simple means for the determination of heterozygotes for genetic counseling.