Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test

Clinica Chimica Acta

Volumn 402, Issue 1-2, 2009, Pages 129-132

  González, Ernesto Carlos ^a   Frómeta, Amarilys ^a   del Río, Lesley ^a   Castells, Elisa ^a   Robaina, Martha S ^a   García, Susana M ^a   Licourt, Tania ^a   Arteaga, Ana L ^a   Martínez, Laritza ^b  

^a Immunoassay Center Cuba   (Cuba)

^b National Center of Medical Genetics   (Cuba)

Author keywords

Blood spots; Neonatal screening; Phe; Phenylketonuria; Ultramicro fluorometric test

Indexed keywords

PHENYLALANINE;

ACCURACY; ANALYTIC METHOD; ARTICLE; CONTROLLED STUDY; CUBA; FALSE NEGATIVE RESULT; HUMAN; MICROFLUOROMETRY; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PRIORITY JOURNAL;

BLOOD SPECIMEN COLLECTION; CUBA; FLUOROMETRY; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PHENYLALANINE; PHENYLKETONURIAS; SENSITIVITY AND SPECIFICITY;

BACTERIA (MICROORGANISMS);

EID: 60749092425     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2008.12.039     Document Type: Article

References (20)

1. Scriver C.R., Kaufman S., Eisensmith R.C., and Woo S.L.C. The hyperphenylalaninemias. In: Scriver C.R., Beaudet A., Sly W., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease vol. 1 (1995), McGraw-Hill, New York 1015-1075 1652 pp.
2. Kaye C.I., and the Committee on Genetics. Newborn Screening Fact Sheets. Pediatrics 118 (2006) 934-963
3. Weglage J., Ullrich K., Pietsch M., Funders B., Zass R., and Koch H.G. Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome. Eur J Pediatr 155 Suppl 1 (1996) S26-28
4. Guthrie R., and Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32 (1963) 338-343
5. Elvers L.H., Diependaal G.A.M., Blonk H.J., and Loeber J.G. Phenylketonuria screening using the Quantase phenylalanine kit in combination with a microfilter system and the dye Tartrazine. Screening 3 (1995) 209-223
6. Schulze A., Mayatepek E., and Hoffmann G.F. Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. Clin Chim Acta 317 (2002) 27-37
7. Blau K. Determination of phenylalanine in filter paper blood spots by a simplified automated fluorimetric method without dialysis. Clin Chim Acta 129 (1983) 197-200
8. Yamaguchi A., Mizushima Y., Fukushi M., Shimizu Y., Kikuchi Y., and Takasugi N. Microassay system for newborn screening for phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia and galactosemia with use of a fluorimetric microplate reader. Screening 1 (1992) 49-62
9. Vollmer D.W., Jinks D.C., and Guthrie R. Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots. Anal Biochem 189 (1990) 115-121
10. Terrlink T., van Leeuwen P.A., and Houdijk A. Plasma amino acids determined by liquid chromatography within 17 minutes. Clin Chem 40 (1994) 245-249
11. Chace D.H., Millington D.S., Terada N., Kahler S.G., R oe C.R., and Hofman L.F. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 39 (1993) 66-71
12. Schulze A., Kholmueller D., and Mayatepek E. Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. Clin Chim Acta 283 (1999) 15-20
13. Heredero L., Atencio G., Vega J.L., Gutiérrez E., and Damiani A. Early diagnosis of phenylketonuria in Cuba: preliminary report. Rev Cuba Pediatr 58 (1986) 27-33
14. Martínez L., Robaina Z., García S., and Gutiérrez E. The Cuban program for neonatal screening of phenylketonuria. Twenty years of experience: the clinical and social attention. Rev Cuba Genet Comunit 2 (2008) 45-51
15. González E.C., Marrero N., Pérez P.L., et al. An enzyme immunoassay for determining 17a-hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system. Clin Chim Acta 396 (2008) 63-66
16. McCaman M.W., and Robins E. Fluorometric method for determination of phenylalanine in serum. J Lab Clin Med 59 (1962) 885-890
17. Elvers L.H., Loeber J.G., Dhondt J.L., et al. First ISNS reference preparation for neonatal screening for thyrotropin, phenylalanine and 17a-hydroxyprogesterone in blood spots. J Inherit Metab Dis 30 (2007) 609
18. Lin L.I. A concordance correlation coefficient to evaluate reproducibility. Biometrics 45 (1989) 255-268
19. CLSI. Protocols for determination of limits of detection and limits of quantitation; Approved guideline. CLSI document EP17-A. Clinical and Laboratory Standards Institute, 940 West Valley Road, Suite 1400, Wayne, Pennsylvania 19087-1898 USA, 2004.
20. Chace D.H., Sherwin J.E., Hillman S.L., Lorey F., and Cunningham G.C. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clin Chem 44 (1998) 2405-2409