Estimation of blood phenylalanine from a dried blood spot using the Guthrie test.
نویسنده
چکیده
منابع مشابه
Fluorometric screening procedure for galactosemia utilizing the autoanalyzer.
A screeningprocedure is described which can be used to separate the great majority of normal personsfrom those with a lack of the enzyme galactose transferase. The method is designed to be used on dried blood spot eluates which remain after a phenylalanine determination has been performed. The optimum conditions for this test are described, and data are presented from a preliminary study of mor...
متن کاملPhenylketonuria screening with a fluorometric microplate assay.
A fluorometric assay in microtitre plates for the screening of phenylketonuria was evaluated and adapted to a neonatal screening programme. Using this assay, it is possible to determine quantitatively the phenylalanine concentration in dried blood spots on filter paper. The test exhibited a linear calibration curve with a good slope as well as sufficient precision and accuracy in the statistica...
متن کاملPhenylalanine analyses of blood-spot control materials: preparation of samples and evaluation of interlaboratory performance.
Aliquots (0.1 mL) of whole-blood pools prepared to contain various concentrations of phenylalanine were applied to filter-paper collection cards, dried, and stored in sealed bags. We measured the phenylalanine content of the dried blood spots by bioassay, fluorometry, and "high-performance" liquid chromatography, and found that the concentrations remained constant for two years when samples wer...
متن کاملFetal expressed gene analysis in maternal blood: a new tool for noninvasive study of the fetus.
References 1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338–43. 2. Williams C, Weber L, Williamson R, Hjelm M. Guthrie spots for DNA-based carrier testing in cystic fibrosis. Lancet 1988;2:693. 3. Verlingue C, Mercier B, Lecoq I, Audrezet MP, Laroche D, Travert G, et al. Retrospective study of the c...
متن کاملScreening for Phenylketonuria
Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his appr...
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عنوان ژورنال:
- Journal of clinical pathology
دوره 24 6 شماره
صفحات -
تاریخ انتشار 1971