Cuban neonatal screening of phenylketonuria using an ultramicro fluorometric test.

Publication: Clinica chimica acta; international journal of clinical chemistry
Publication Date: 2009
Study Author(s): González, Ernesto Carlos;Frómeta, Amarilys;del Río, Lesley;Castells, Elisa;Robaina, Martha S;García, Susana M;Licourt, Tania;Arteaga, Ana L;Martínez, Laritza;
Institution: Immunoassay Center, 134th Street and 25th Avenue, Postal Code 6653, Cubanacan, Playa, Havana, Cuba.
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BACKGROUND : Guthrie's bacterial inhibition assay was used in Cuba, since 1983. A decentralized program for the newborn screening of hyperphenylalaninemias started in the year 2000 using an ultramicro-fluorometric test (UMTEST PKU).

METHODS : A simple and rapid ultramicro-fluorometric test based on McCaman and Robin's method has been designed, developed and applied for the measurement of Phe in dried blood spots on filter paper.

RESULTS : The UMTEST PKU exhibited an acceptable precision and accuracy. Samples of 27528 newborns on filter paper Schleicher & Schuell 903 (S&S 903) from the National neonatal screening program were collected and analyzed, and the mean Phe concentration was 66.5 micromol/l. Our assay showed high Pearson and concordance correlations with 2 commercially available kits. A total of 521923 Cuban newborns were studied from the year 2000 to 2007 using the UMTEST PKU. Elevated blood Phenylalanine levels were found in 1764 infants (0.34%) and no false negative were noted. Ten cases were diagnosed with phenylketonuria, all of them with an initial phenylalanine concentration over 360 micromol/l.

CONCLUSIONS : The analytical performance characteristics of our assay and its use in the National program have demonstrated its suitability for the neonatal screening of PKU.
PMID: 19168043

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