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Titolo:
Quantitative Beutler test for newborn mass screening of galactosemia usinga fluorometric microplate reader
Autore:
Fujimoto, A; Okano, Y; Miyagi, T; Isshiki, G; Oura, T;
Indirizzi:
Osaka City Univ, Sch Med, Dept Pediat, Abeno Ku, Osaka 5458585, Japan Osaka City Univ Osaka Japan 5458585 diat, Abeno Ku, Osaka 5458585, Japan Osaka City Environm & Publ Hlth Assoc, Osaka 5410055, Japan Osaka City Environm & Publ Hlth Assoc Osaka Japan 5410055 5410055, Japan
Titolo Testata:
CLINICAL CHEMISTRY
fascicolo: 6, volume: 46, anno: 2000,
parte:, 1
pagine: 806 - 810
SICI:
0009-9147(200006)46:6<806:QBTFNM>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Okano, Y Osaka City Univ, Sch Med, Dept Pediat, Abeno Ku, 1-4-3 Asahimachi, Osaka 5458585, Japan Osaka City Univ 1-4-3 Asahimachi Osaka Japan 5458585 8585, Japan
Citazione:
A. Fujimoto et al., "Quantitative Beutler test for newborn mass screening of galactosemia usinga fluorometric microplate reader", CLIN CHEM, 46(6), 2000, pp. 806-810

Abstract

Background: The Beutler enzyme spot test is an effective assay for newbornmass screening of galactosemia, but it is qualitative and relies on visualinterpretation. We describe a quantitative, instrumental modification of the assay. Methods: We modified the macroscopic visual Beutler enzyme spot test by adding extraction of blood components from filter paper, deproteinization with acetone-methanol, and quantification and recording by a fluorescent microplate reader and personal computer. All handling was performed in microplates. The measurement time was 90 min. Results: Fluorescence intensity (FI) of healthy controls correlated with hematocrit and gal actose-1-phosphate uridyltransferase (GALT) activity. Patients with GALT deficiency were distinguished clearly from healthy subjectsand heterozygous carriers by Fl. FI decreased to 75% of the initial activity after storage at 25 degrees C for 3 days and to 40% after storage at 37 degrees C for 7 days. Screening of 46 742 newborns yielded I false-positiveresult (in a heterozygous carrier), I patient with glucose-6-phosphate dehydrogenase deficiency, and no apparent false negatives as judged by concurrent measurements of galactose and galactose-l-phosphate. Conclusions: The quantitative Beutler test can provide precise GALT activity in newborn mass screening, and can take into consideration the influenceof high temperature and humidity, duration between sampling and testing, and anemia. This method is clinically useful, simple, automated, and highly reliable for newborn mass screening of galactosemia. (C) 2000 American Association for Clinical Chemistry.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 20:26:04