Mass screening of urea cycle diseases: a new mass screening method of hyperornithinemia by using two coupling enzymes.
We devised a new microfluorometric mass screening method for determining ornithine in only one blood disc of 3 mm in diameter (blood of 2-3 microliters) by use of two coupling enzymes, ornithine aminotransferase and delta'-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 54.8 mg% or about 4 mM ornithine in blood. Ornithine values by our method were well correlated with those by an amino acid analyser.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000517:prevention & control*; D001284:Atrophy; D002829:Choroid; D006801:Humans; D008403:Mass Screening / Q000379:methods*; D009952:Ornithine / Q000097:blood*; D012164:Retinal Diseases / Q000097:blood; D013050:Spectrometry, Fluorescence / Q000379:methods; D014603:Uveal Diseases / Q000097:blood
D009952:Ornithine