{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,5,6]],"date-time":"2023-05-06T01:10:46Z","timestamp":1683335446454},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phenylketonuria is an inherited metabolic disease, which is characterized by an increased level of serum phenylalanine. Quantitative measurement of phenylalanine in the serum of phenylketonuria patients is necessary to confirm the disease, and to distinguish phenylketonuria from other forms of hyperphenylalaninemia. In this study, we report a rapid and inexpensive micro-assay for simultaneous detection and quantitative measurement of serum phenylalanine on dry blood-spots. Analysis of the standard curve showed a broad linear range for phenylalanine from 120 to 1800\u03bcmol\/L. Application of this method, the standard Guthrie bacterial inhibition assay and a high-performance liquid chromatography (HPLC) method for analysis of 34 samples from phenylketonuria patients and control samples produced comparable results, with the regression equation Y=0.994X+0.996. The advantage of this method over the Guthrie bacterial inhibition assay is its ability to measure serum phenylalanine quantitatively without false positive results. The method was successfully applied to dried blood-spots, serum and whole blood. The cost per sample is approximately 20\u201350 US cents, which is much less than for HPLC and commercial enzyme kits. The method can be automated, and is thus suitable for neonatal and mass screening for phenylketonuria, especially in developing countries where funding is a limiting factor.<\/jats:p>","DOI":"10.1515\/cclm.2006.015","type":"journal-article","created":{"date-parts":[[2005,12,24]],"date-time":"2005-12-24T14:54:40Z","timestamp":1135436080000},"source":"Crossref","is-referenced-by-count":1,"title":["Quantitative bacterial micro-assay for rapid detection of serum phenylalanine on dry blood-spots: application in phenylketonuria screening"],"prefix":"10.1515","volume":"44","author":[{"given":"Sadeq","family":"Vallian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Moeini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref21","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1172\/JCI111695","article-title":"Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria A model for the study of phenylalanine and brain function in man","volume":"75","author":"Krause","year":"1985","journal-title":"J Clin Invest"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1542\/peds.32.3.338","article-title":"A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants","volume":"32","author":"Guthrie","year":"1963","journal-title":"Pediatrics"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1093\/clinchem\/35.10.2112","article-title":"Fluorimetric method for phenylalanine assay adapted for phenylketonuria screening","volume":"35","author":"Gerasimova","year":"1989","journal-title":"Clin Chem"},{"key":"ref61","first-page":"133","article-title":"An automated enzymatic method on the Roche COBAS MIRA S for monitoring phenylalanine in dried blood spots of patients with phenylketonuria","volume":"29","author":"Randell","year":"1996","journal-title":"Clin Chem"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.2105\/AJPH.72.12.1347","article-title":"A survey to evaluate parental consent as public policy for neonatal screening","volume":"72","author":"Faden","year":"1982","journal-title":"Am J Public Health"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0168-9525(99)01761-8","article-title":"Monogenic traits are not simple : lessons from phenylketonuria","volume":"15","author":"Scriver","year":"1996","journal-title":"Trends Genet"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1399-0004.1976.tb00054.x","article-title":"The frequency of PKU and hyperphenylalaninemia in Sweden A study in institutions for mentally retarded as well as in neonates","volume":"10","author":"Holmgren","year":"1976","journal-title":"Clin Gen"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1099\/00222615-41-6-389","article-title":"Rapid identification of micro - 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