NEONATAL SCREENING FOR MAPLE-SYRUP-URINE-DISEASE BY AN ENZYME-MEDIATED COLORIMETRIC METHOD

Authors
WENDEL U GONZALES J HUMMEL W
Citation
U. Wendel et al., NEONATAL SCREENING FOR MAPLE-SYRUP-URINE-DISEASE BY AN ENZYME-MEDIATED COLORIMETRIC METHOD, Clinica chimica acta, 219(1-2), 1993, pp. 105-111
Citations number
17
Categorie Soggetti
Chemistry Medicinal
Journal title
Clinica chimica acta → ACNP
ISSN journal
00098981
Volume
219
Issue
1-2
Year of publication
1993
Pages
105 - 111
Database
ISI
SICI code
0009-8981(1993)219:1-2<105:NSFMBA>2.0.ZU;2-H
Abstract
A microplate-based, enzyme-mediated, colorimetric method using L-leuci ne dehydrogenase (EC 1.4.1.9) has been developed for the determination of the combined branched-chain amino acids in plasma and blood-spot s pecimens. The test exhibits acceptable precision and fits into a new c oncept according to which the different parameters of neonatal screeni ng programs for metabolic disorders, such as phenylalanine (phenylketo nuria), galactose/galactose-1-phosphate (galactosemia) and branched-ch ain amino acids (maple syrup urine disease) can be measured in the sam e blood-spot eluate by use of different specific NAD(H)-dependent enzy mes.