Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method

doi:10.1016/0009-8981(93)90201-E

Clinica Chimica Acta

Volume 219, Issues 1–2, 15 October 1993, Pages 105-111

https://doi.org/10.1016/0009-8981(93)90201-E Get rights and content

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.

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A method for the determination of branched-chain L-amino acids in plasma is described. Leucine dehydrogenase and NADH oxidase were co-immobilized on aminated poly(vinyl alcohol) beads and incorporated in a flow-injection system with chemiluminescence detection. 20 μ1 sample solution was injected into the system. The hydrogen peroxide produced was detected chemiluminometrically via a luminol-hexacyanoferrate(III) reaction. The calibration graph was linear for 5 × 10⁻⁷-6 × 10⁻⁴ M; the detection limit (signal-to-noise ratio = 3) was 3 × 10⁻⁷ M and the sample throughput was 15 h⁻¹ without carryover.
Isolation and characterization of Leucine dehydrogenase from a thermophilic Citrobacter freundii JK-91strain Isolated from Jask Port
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Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease
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Simultaneous determination of l-phenylalanine and branched-chain l-amino acids in plasma by liquid chromatographic system with a coimmobilized enzyme reactor and fluorescence detection
2000, Analytical Sciences
Analytical Approach in Diagnosis of Inherited Metabolic Diseases: Maple Syrup Urine Disease (MSUD) - Simultaneous Analysis of Metabolites in Urine by Enantioselective Multidimensional Capillary Gas Chromatography-Mass Spectrometry (Enantio-MDGC-MS)
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Clinica Chimica Acta

Abstract

References (17)

Properties of crystalline leucine dehydrogenase from Bacillus sphaericus

J Biol Chem

A simple enzymatic fluorimetric method for the determination of branched-chain L-amino acids in microlitre volumes of plasma

Clin Chim Acta

Accelerated chromatography of amino acids associated with phenylketonuria, leucinosis (maple syrup urine disease) and other inborn errors of metabolism

Anal Biochem

Monitoring of phenylketonuria: a colorimetric method for the determination of plasma phenylalanine using L-phenylalanine dehydrogenase

Anal Biochem

A new approach to the newborn screening for hyperphenylalaninemias: use of L-phenylalanine dehydrogenase and microtiter plates

Clin Chim Acta

Enzymatic method for phenylalanine screening using phenylalanine dehydrogenase

Clin Biochem

Disorders of branched-chain amino acid and keto acid metabolism

Newborn screening for maple syrup urine disease (branched-chain ketonuria)

Pediatrics

Cited by (7)

Determination of branched-chain L-amino acids by flow-injection analysis with co-immobilized leucine dehydrogenase/NADH oxidase and chemiluminescence detection

Isolation and characterization of Leucine dehydrogenase from a thermophilic Citrobacter freundii JK-91strain Isolated from Jask Port

Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease

Amino acid dehydrogenases

Simultaneous determination of l-phenylalanine and branched-chain l-amino acids in plasma by liquid chromatographic system with a coimmobilized enzyme reactor and fluorescence detection

Analytical Approach in Diagnosis of Inherited Metabolic Diseases: Maple Syrup Urine Disease (MSUD) - Simultaneous Analysis of Metabolites in Urine by Enantioselective Multidimensional Capillary Gas Chromatography-Mass Spectrometry (Enantio-MDGC-MS)