The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease.

Plasma branched chain amino acid levels and their respective ketoacid analogues were determined in seven maple syrup urine disease patients ranging in age from 12 h to 12 years. One hundred one pairs were analyzed. There was a high degree of correlation between the amino acid and its ketoacid analogue at every amino acid level. The coefficient of correlation (0.84) was highest for leucine-alpha-ketoisocaproic acid. The ratio of ketoacid analogue to amino acid, (0.87), was also the greatest for leucine. The close correlation implies that adequate monitoring for therapy can be accomplished by the use of the technically simpler and more rapid determination of the plasma branched chain amino acids.