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Clinical Chemistry 46: 806-810, 2000;
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(Clinical Chemistry. 2000;46:806-810.)
© 2000 American Association for Clinical Chemistry, Inc.

Articles

Quantitative Beutler Test for Newborn Mass Screening of Galactosemia Using a Fluorometric Microplate Reader

Akie Fujimoto1, Yoshiyuki Okano2,a, Tomiko Miyagi1, Gen Isshiki2 and Toshiaki Oura1

1 Osaka City Environment and Public Health Association, Osaka 541-0055, Japan.

2 Department of Pediatrics, Osaka City University Medical School, 1-4-3 Asahimachi, Abeno-ku, Osaka 545-8585, Japan.
a Author for correspondence. Fax 81-6-6636-8737; e-mail okano{at}med.osaka-cu.ac.jp

Background: The Beutler enzyme spot test is an effective assay for newborn mass screening of galactosemia, but it is qualitative and relies on visual interpretation. 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 galactose-1-phosphate uridyltransferase (GALT) activity. Patients with GALT deficiency were distinguished clearly from healthy subjects and heterozygous carriers by FI. FI decreased to 75% of the initial activity after storage at 25 °C for 3 days and to 40% after storage at 37 °C for 7 days. Screening of 46 742 newborns yielded 1 false-positive result (in a heterozygous carrier), 1 patient with glucose-6-phosphate dehydrogenase deficiency, and no apparent false negatives as judged by concurrent measurements of galactose and galactose-1-phosphate.

Conclusions: The quantitative Beutler test can provide precise GALT activity in newborn mass screening, and can take into consideration the influence of 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.




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S. M. Castro, R. Weber, V. Dadalt, V. F. Santos, G. J. Reclos, K. A. Pass, and R. Giugliani
Evaluation of Glucose-6-Phosphate Dehydrogenase Stability in Blood Samples under Different Collection and Storage Conditions
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U. G. Jensen, N. J. Brandt, E. Christensen, F. Skovby, B. Norgaard-Pedersen, and H. Simonsen
Neonatal Screening for Galactosemia by Quantitative Analysis of Hexose Monophosphates Using Tandem Mass Spectrometry: A Retrospective Study
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