Mass Screening of Urea Cycle Diseases: A New Mass Screening Method of Hyperornithinemia by Using Two Coupling Enzymes

Abstract

FUJIMURA, Y., MATSUZAWA, T., KAWAMURA, M., TADA, K. and MIZUNO, K. Mass Screening of Urea Cycle Diseases: A New Mass Screening Method of Hyperornithinemia by Using Two Coupling Enzymes. Tohoku J, exp. Med., 1983, 141 (3), 257-261 - We devised a new microfluorometric mass screening method for determining ornithine in only one blood disc of 3mm in diameter (blood of 2-3μl) by use of two coupling enzymes, ornithine aminotransferase and Δ'-pyrroline-5-carboxylate reductase. We could apply this method to some cases of gyrate atrophy of the choroid and retina. Our method can be applied in range of 0 to 12-16 nmoles or about 54.8mg% or about 4mM ornithine in blood. Ornithine values by our method were well correlated with those by an amino acid analyser.