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Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method
U Wendel1, J Gonzales, W Hummel
1Kinderklinik der Heinrich-Heine Universität, Düsseldorf, Germany.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|October 15, 1993
Abstract:
A microplate-based, enzyme-mediated, colorimetric method using L-leucine dehydrogenase (EC 1.4.1.9) has been developed for the determination of the combined branched-chain amino acids in plasma and blood-spot specimens. The test exhibits acceptable precision and fits into a new concept according to which the different parameters of neonatal screening programs for metabolic disorders, such as phenylalanine (phenylketonuria), galactose/galactose-1-phosphate (galactosemia) and branched-chain amino acids (maple syrup urine disease) can be measured in the same blood-spot eluate by use of different specific NAD(H)-dependent enzymes.