title: Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method.
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.
authors.affiliation: Kinderklinik der Heinrich-Heine Universität, Düsseldorf, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: J
authors.initials: J
authors.lastname: Gonzales
authors.forename: W
authors.initials: W
authors.lastname: Hummel
mesh_terms: D000594:Amino Acid Oxidoreductases; D000597:Amino Acids, Branched-Chain / Q000097:blood; D001322:Autoanalysis; D003124:Colorimetry; D004798:Enzymes; D006801:Humans; D007202:Indicators and Reagents; D007231:Infant, Newborn; D007930:Leucine / Q000097:blood; D050803:Leucine Dehydrogenase; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000175:diagnosis*; D015997:Neonatal Screening
chemical_list: D000597:Amino Acids, Branched-Chain; D004798:Enzymes; D007202:Indicators and Reagents; D000594:Amino Acid Oxidoreductases; D050803:Leucine Dehydrogenase; D007930:Leucine