Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts

Methods are given in detail to assay branched chain keto acid oxidases in native leucocytes and fibroblasts. In peripheral blood these enzymes are located preferentially in lymphocytes. The intraindividual variation of enzyme activities in leucocytes is reduced by correcting for the number of lymphocytes. In contrast, interindividual variation remains… CONTINUE READING