DETECTION OF HETEROZYGOTES IN MAPLE SYRUP URIN DISEASE - ROLE OF LYMPHOCYTE COUNT

It is reported that the enzyme activity for oxydative decarboxylation of the α-keto acis derived from the branched chain amino acids valine, leucine and isoleucine in peripheral blood is located in the lymphocytes. The equation for the relationship of enzyme activity for these reactions and the relative lymphocyte count of the leukocyte suspension is given. Thus the possibility of faulty interpretation can be reduced. Further evidence for the existence of different oxidase proteins for the catabolism of the three branched chain α-keto acids is given. © 1968 Springer-Verlag.