Newborn screening for hyperphenylalanine
Institute of Medical genetics of Hospital Italiano
Keywords:
PHENYLKETONURIA, PHENYLALANINE, FLUOROMETRYAbstract
Newborn detection of metabolic congenital abnormalities by newborn screening consists of systematic searching of affections that could be treated in early stages. Since November 1993, quantification of phenylalanine was obtained by filter paper blood spots collected from newborns by fluorometric technique for hyperphenylalanine. Reagents were prepared in the laboratory, accuracy of the method was controlled by an external quality control program (reference method).
Cutoff for the population (n=190) was 2.5 mg/dl of phe-nylalanine. The fluorometric technique used was assessed. Regression analysis for the results obtained by fluorometric technique and the reference method showed lineal association among those techniques (n=93; r=0.94; y=0.87x + 0.519) and reliance on the proposed technique based on the equivalence of the techniques. Phe stability was analysed using filter paper blood spots storaged at 4°C. Amino acid profiles retrieved after five years of storage (83% to 100%) and the statistic test used showed that the amino acid is stable when storaged under these conditions.
References
1) Scriver CR, Kaufman S. Hyperphenylalaninemia: Phenylalanine hydroxilase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed. New York: Mc Graw Hill, 2001:1667-724.
2) Committee on Genetics. Aspectos del screening neonatal. Pediatrics (ed. esp.) 1992; 33:103-7.
3) Bickel H. Rationale of Neonatal Screening for Inborn Errors of Metabolism. In: Bickel H, Guthrie R, Hammersen G, eds. Neonatal Screening for Inborn Errors of Metabolism. Berlín: Springer, 1980:1-6.
4) Wilcox WR, Cederbaum SD. Aminoacid metabolism. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's: Principles and Practice of Medical Genetics. 4ª ed. London: Churchill Livingstone, 2002:2405-40.
5) Smith I, Lee P. The hyperphenylalaninemias. In: Fernandes J, Saudubray JM, van der Berghe GV, eds. Inborn Metabolic Diseases. Diagnosis and treatment. 3ª ed. Berlín: Springer-Verlag, 2000:170-83.
6) Corsello G, Bosco P, Calí F, Greco D, Cammarata M, Caccio M, et al. Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P470L) Eur J Pediatr 1999; 158(1):83-4.
7) Enns GM, Martinez DR, Kuzmin AI, Koch R, Wakeem CK, Woo SL, et al. Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pediatr Res 1999; 46(5):594-602.
8) Guttler F, Azen C, Guldberg P, Romstad A, Hanley W, Levy HL. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hidroxylase deficiency: report from the maternal phenylketonuria collaborative study. Pediatrics 1999; 104(2 Pt 1):258-62.
9) Smith I. Treatment of phenylalanine hydroxylase deficiency. Acta Paediatr Suppl 1994; 407:60-5.
10) Schmidt H, Burgard P, Pietz J, Rupp A. Intelligence and professional career in young adults treated early for phenylketonuria. Eur J Pediatr 1996; 155(Suppl 1):S97-100.
11) Cockburn F, Clark BJ. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur J Pediatr 1996; 155(Suppl 1):S125-9.
12) Azen C, Koch R, Friedman E, Wenz E, Fishler K. Summary or findings from the United States Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 1996; 155(Suppl 1):S29-32.
13) Rafaelli A, Dell' Acqua A. Pesquisaje neonatal (PN) de hiperfenilalaninemias (HFA): 1er. caso detectado en el Uruguay. Congreso Uruguayo de Bioquímica Clínica, 1º. Montevideo. Uruguay, 1997:71-2.
14) Gutrhie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large population of newborn infants. Pediatrics 1963; 32:338-43.
15) McCaman MW, Robins E. Fluorometric method for the determination of Phenylalanine in serum. J Lab Clin Med 1962; 59:885-90.
16) Wendel U, Koppelkaumm M, Hummel W, Sander J, Langenbeck U. A new approach to the newborn screening for hyperphenylalaninemia use of L- pheylalnine dehydrogenase and microtiter plates. Clin Chim Acta 1990; 192(3):165-70.
17) Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by Tandem Mass Spectrometry. Clin Chem 1993; 39(1):66-71.
18) Chamoles NA, Spécola N. Encefalopatías evolutivas: errores congénitos del metabolismo. In: Fejermann N y Fernández Álvarez E, eds. Neruología Pediátrica. 2 ed. Buenos Aires: Panamericana, 1997:319-82.
19) Mathias D, Böttcher M, Gebhard J. Quality Control in Neonatal Screening for Inborn Errors of Metabolism. Short communication. Clin Lab 1998; 44:51-60.
20) Philips RE, de Boton R. (A Clinical Laboratory Procedure from G.K. Turner Associates, Inc., 2524 Pulgas Avenue, Palo Alto, California 94303): A simplified determination of blood phenylalanine using samples collected on paper.
21) Holtzman NA, Mc Cabe ERG, Cunningham GC, Berry HK. Screening for phenylketonuria. N Engl J Med 1981; 304(21):1300-1.
22) Siest G. Simposio Valores de Referencia. Congreso de Bioquímica Clínica, 2º; Montevideo, Uruguay; 1999:23-5.
23) Weiner DL, Canton RM, Mitchel PL, Mannes P. False positive rate in neonatal phenylketonuria (PKU) screening using a 2 mg/dl phenylalanine (PA) cut-off. Am J Hum Genet 1981; 33:94A.
24) Erbe RW, Levy HL. Screening neonatal. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's: Principles and Practice of Medical Genetic. 3 ed. New York: Churchill Livingstone, 1997:581-93.
25) Doherty LB, Rohr FJ, Levy HL. Detection of phenylketonuria in the very early newborn blood specimen. Pediatrics 1991; 87(2):240-4.
26) Jew K, Kan K, Koch R, Cunningham GC. Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method. Screening 1994; 3:1-9.
27) Smith I, Cook B, Beasley M. Review of neonatal screening programme for phenylketonuria. BMJ 1991; 303(6798):333-5.
28) Levy HL, Simmons JR, MacCready RA. Stability of amino acids and galactose in the newborn screening filter paper blood specimen. J Pediatr 1985; 107(5):757-9.
2) Committee on Genetics. Aspectos del screening neonatal. Pediatrics (ed. esp.) 1992; 33:103-7.
3) Bickel H. Rationale of Neonatal Screening for Inborn Errors of Metabolism. In: Bickel H, Guthrie R, Hammersen G, eds. Neonatal Screening for Inborn Errors of Metabolism. Berlín: Springer, 1980:1-6.
4) Wilcox WR, Cederbaum SD. Aminoacid metabolism. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's: Principles and Practice of Medical Genetics. 4ª ed. London: Churchill Livingstone, 2002:2405-40.
5) Smith I, Lee P. The hyperphenylalaninemias. In: Fernandes J, Saudubray JM, van der Berghe GV, eds. Inborn Metabolic Diseases. Diagnosis and treatment. 3ª ed. Berlín: Springer-Verlag, 2000:170-83.
6) Corsello G, Bosco P, Calí F, Greco D, Cammarata M, Caccio M, et al. Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P470L) Eur J Pediatr 1999; 158(1):83-4.
7) Enns GM, Martinez DR, Kuzmin AI, Koch R, Wakeem CK, Woo SL, et al. Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pediatr Res 1999; 46(5):594-602.
8) Guttler F, Azen C, Guldberg P, Romstad A, Hanley W, Levy HL. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hidroxylase deficiency: report from the maternal phenylketonuria collaborative study. Pediatrics 1999; 104(2 Pt 1):258-62.
9) Smith I. Treatment of phenylalanine hydroxylase deficiency. Acta Paediatr Suppl 1994; 407:60-5.
10) Schmidt H, Burgard P, Pietz J, Rupp A. Intelligence and professional career in young adults treated early for phenylketonuria. Eur J Pediatr 1996; 155(Suppl 1):S97-100.
11) Cockburn F, Clark BJ. Recommendations for protein and amino acid intake in phenylketonuric patients. Eur J Pediatr 1996; 155(Suppl 1):S125-9.
12) Azen C, Koch R, Friedman E, Wenz E, Fishler K. Summary or findings from the United States Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 1996; 155(Suppl 1):S29-32.
13) Rafaelli A, Dell' Acqua A. Pesquisaje neonatal (PN) de hiperfenilalaninemias (HFA): 1er. caso detectado en el Uruguay. Congreso Uruguayo de Bioquímica Clínica, 1º. Montevideo. Uruguay, 1997:71-2.
14) Gutrhie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large population of newborn infants. Pediatrics 1963; 32:338-43.
15) McCaman MW, Robins E. Fluorometric method for the determination of Phenylalanine in serum. J Lab Clin Med 1962; 59:885-90.
16) Wendel U, Koppelkaumm M, Hummel W, Sander J, Langenbeck U. A new approach to the newborn screening for hyperphenylalaninemia use of L- pheylalnine dehydrogenase and microtiter plates. Clin Chim Acta 1990; 192(3):165-70.
17) Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by Tandem Mass Spectrometry. Clin Chem 1993; 39(1):66-71.
18) Chamoles NA, Spécola N. Encefalopatías evolutivas: errores congénitos del metabolismo. In: Fejermann N y Fernández Álvarez E, eds. Neruología Pediátrica. 2 ed. Buenos Aires: Panamericana, 1997:319-82.
19) Mathias D, Böttcher M, Gebhard J. Quality Control in Neonatal Screening for Inborn Errors of Metabolism. Short communication. Clin Lab 1998; 44:51-60.
20) Philips RE, de Boton R. (A Clinical Laboratory Procedure from G.K. Turner Associates, Inc., 2524 Pulgas Avenue, Palo Alto, California 94303): A simplified determination of blood phenylalanine using samples collected on paper.
21) Holtzman NA, Mc Cabe ERG, Cunningham GC, Berry HK. Screening for phenylketonuria. N Engl J Med 1981; 304(21):1300-1.
22) Siest G. Simposio Valores de Referencia. Congreso de Bioquímica Clínica, 2º; Montevideo, Uruguay; 1999:23-5.
23) Weiner DL, Canton RM, Mitchel PL, Mannes P. False positive rate in neonatal phenylketonuria (PKU) screening using a 2 mg/dl phenylalanine (PA) cut-off. Am J Hum Genet 1981; 33:94A.
24) Erbe RW, Levy HL. Screening neonatal. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's: Principles and Practice of Medical Genetic. 3 ed. New York: Churchill Livingstone, 1997:581-93.
25) Doherty LB, Rohr FJ, Levy HL. Detection of phenylketonuria in the very early newborn blood specimen. Pediatrics 1991; 87(2):240-4.
26) Jew K, Kan K, Koch R, Cunningham GC. Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric method. Screening 1994; 3:1-9.
27) Smith I, Cook B, Beasley M. Review of neonatal screening programme for phenylketonuria. BMJ 1991; 303(6798):333-5.
28) Levy HL, Simmons JR, MacCready RA. Stability of amino acids and galactose in the newborn screening filter paper blood specimen. J Pediatr 1985; 107(5):757-9.
Downloads
Published
2004-03-31
How to Cite
1.
Roselli MJ, Lemes A, Reyno S, Vaglio A, Quadrelli R. Newborn screening for hyperphenylalanine: Institute of Medical genetics of Hospital Italiano. Rev. Méd. Urug. [Internet]. 2004 Mar. 31 [cited 2024 Nov. 22];20(1):72-8. Available from: https://revista.rmu.org.uy/index.php/rmu/article/view/932
Issue
Section
Original Articles
