Treatment and control of patients with phenylketonuria: Results from the Collaborative Group of Spanish Follow-up Units;Tratamiento y control de los pacientes con fenilcetonuria: resultados del Grupo Colaborativo de Unidades de Seguimiento en España

Medicina Clinica

Volumn 138, Issue 5, 2012, Pages 185-191

  Campistol, Jaume ^a   González, María Julieta ^a   Gutiérrez, Alfonso Pablo ^a   Vilaseca, María Antnia ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Dietary control; Management; Phenylketonuria; RegistryTetrahydrobiopterin; Treatment

Indexed keywords

PHENYLALANINE;

ADULT; AGED; AMINO ACID URINE LEVEL; ARTICLE; CHILD; DIET THERAPY; EDUCATIONAL STATUS; FACTUAL DATABASE; FOLLOW UP; HOSPITAL SUBDIVISIONS AND COMPONENTS; HUMAN; INFANT; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; NEUROLOGICAL COMPLICATION; NEWBORN SCREENING; OUTCOME ASSESSMENT; PHENYLKETONURIA; PRESCHOOL CHILD; PROGNOSIS; PROTEIN RESTRICTION; REGISTER; SCHOOL CHILD; SPAIN;

ADOLESCENT; ADULT; BIOPTERIN; CHILD; CHILD, PRESCHOOL; COOPERATIVE BEHAVIOR; DELAYED DIAGNOSIS; DIET, PROTEIN-RESTRICTED; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HOSPITAL UNITS; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; QUALITY OF LIFE; QUESTIONNAIRES; REGISTRIES; SOCIOECONOMIC FACTORS; SPAIN; YOUNG ADULT;

EID: 84857363922     PISSN: 00257753     EISSN: 15788989     Source Type: Journal    
DOI: 10.1016/j.medcli.2011.03.037     Document Type: Article

References (25)

1. C.R. Scriver, C. Kaufman, R.C. Eisensmith, and S.L.C. Woo The hyperphenylalaninemias C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, The metabolic and molecular basis of inherited disease. Chap. 77 2001 McGraw Hill New York 1667 1724
2. a ed. 2010 Ergon Majadahonda 423 439
3. H. Przyrembel, and H.J. Bremer Nutrition, physical growth, and bone density in treated phenylketonuria Eur J Pediatr 159 Suppl 2 2000 S129 S135
4. M. Giovannini, E. Verduci, E. Salvatici, L. Fiori, and E. Riva Phenylketonuria: dietary and therapeutic challenges J Inherit Metab Dis 30 2007 145 152 (Pubitemid 46487994)
5. N. Blau, and H. Erlandsen The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency Mol Genet Metab 82 2004 101 111 (Pubitemid 38692547)
6. R. Gassió, R. Artuch, M.A. Vilaseca, E. Fusté, C. Boix, and A. Sans Cognitive functions in classic phenylketonuria and mild hyperphenylalaninemia: experience in a paediatric population Dev Med Child Neurol 47 2005 443 448 (Pubitemid 40895408)
7. J. Weglage, M. Pietsch, B. Fünders, H.G. Koch, and K. Ullrich Deficits in selective and sustained attention processes in early treated children with phenylketonuria - result of impaired frontal lobe functions? Eur J Pediatr 155 1996 200 204 (Pubitemid 26051973)
8. I. Smith, M.G. Beasley, and A.E. Ades Intelligence and quality of dietary treatment in phenylketonuria Arch Dis Child 65 1990 472 478 (Pubitemid 20151074)
9. R. Guthrie, and A. Susi A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants Pediatrics 32 1963 338 343
10. Recommendations on the dietary management of phenylketonuria: Report of Medical Research Council Working Party on Phenylketonuria. Arch Dis Child. 1993;68:426-7.
11. P. Burgard, H.J. Bremer, P. Bührdel, P.C. Clemens, E. Mönch, and H. Przyrembel Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997 Eur J Pediatr 158 1999 46 54 (Pubitemid 29143579)
12. R. Wappner, S. Cho, R.A. Kronmal, V. Schuett, and M.R. Seashore Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors Pediatrics 104 1999 4 9
13. H.O. Ogier de Baulny, V. Abadie, F. Feillet, and L. de Parscau Management of phenylketonuria and hyperphenylalaninemia J Nutr 137 6 Suppl 1 2007 1561S 1563S (Pubitemid 46855507)
14. S. Schweitzer-Krantz, and P. Burgard Survey of national guidelines for the treatment of phenylketonuria Eur J Pediatr 159 Suppl 2 2000 S70 S73
15. J.H. Walter, F.J. White, S.K. Hall, A. MacDonald, G. Rylance, and A. Boneh How practical are recommendations for dietary control in phenylketonuria? Lancet 360 2002 55 57 (Pubitemid 34756494)
16. F.J. Van Spronsen, K. Kiaer Ahring, and M. Gisewska PKU-what is daily practice in various centres in Europe J Inherit Metabolic Disease 32 2009 58 64
17. N. Blau, A. Bélanger-Quintana, M. Demirkol, F. Feillet, M. Giovannini, and A. MacDonald Management of phenylketonuria in Europe: Survey results from 19 countries Mol Genet Metab 99 2010 109 115
18. M. Martínez-Pardo, C. Marchante, J. Dalmau, M. Pérez, and J. Bellón Protocolo de diagnóstico, tratamiento y seguimiento de las hiperfenilalaninemias An Esp Ped 114 Suppl 1998 3 8 Disponible en: http://www.ae3com.eu/recursos-protocolo.php
19. F.J. Van Spronsen, and P. Burgard The truth of treating patients with phenylketonuria after childhood: the need for a new guideline J Inherit Metab Dis 31 2008 673 679
20. B. Fiege, and N. Blau Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria J Pediatr 150 2007 627 630 (Pubitemid 46755809)
21. M.A. Vilaseca, N. Lambruschini, L. Gómez-López, A. Gutiérrez, E. Fusté, and R. Gassió Quality of dietary control in phenylketonuric patients and its relationship with general intelligence Nutr Hosp 25 2010 60 66
22. N. Blau, A. Bélanger-Quintana, M. Demirkol, F. Feillet, M. Giovannini, and A. MacDonald Optimizing the use of sapropterin (BH4) in the management of phenylketonuria Mol Genet Metab 96 2009 158 163
23. A.L. Pey, M. Ying, N. Cremades, A. Velazquez-Campoy, T. Scherer, and B. Thöny Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria J Clin Invest 118 2008 2858 2867
24. L.R. Desviat, B. Perez, M.J. Garcia, M. Martinez-Pardo, A. Baldellou, and J. Arena Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population Eur J Hum Genet 5 1997 196 202 (Pubitemid 27453899)
25. J. Mallolas, M.A. Vilaseca, J. Campistol, N. Lambruschini, F.J. Cambra, and X. Estivill Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation Hum Genet 105 1999 468 473