Requirements for a minimum standard of care for phenylketonuria: The patients' perspective

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Hagedorn, Tobias S ^a,c   Van Berkel, Paul ^b   Hammerschmidt, Gregor ^a,d   Lhotáková, Markéta ^e   Saludes, Rosalia Pasqual ^f  

^a European Society for Phenylketonuria and Allied Disorders (ESPKU)   (Belgium)

^b Nederlandse Phenylketonurie Vereniging   (Netherlands)

^c Deutsche Interessengemeinschaft Phenylketonurie ^*  (Germany)

^d Österreichische Gesellschaft für Angeborene Stoffwechselstö rungen   (Austria)

^e National Association for PKU and Other Inherited Metabolic Disorders   (Czech Republic)

^f Federación Española de Fenilcetornuria y Otros Trastornos Del Metabolismo   (Spain)

Author keywords

Centres of Expertise; Europe; Guidelines; Healthcare agenda; Patient advocacy; Patient group; Patient voice; Phenylketonuria; Screening; Standards of care

Indexed keywords

PHENYLALANINE;

AGE; AMINO ACID BLOOD LEVEL; CHILD CARE; COST OF ILLNESS; DIETARY COMPLIANCE; EUROPE; EVIDENCE BASED PRACTICE; HEALTH CARE PERSONNEL; HEALTH CARE POLICY; HEALTH CARE QUALITY; HUMAN; PATIENT CARE; PATIENT EDUCATION; PATIENT MONITORING; PHENYLKETONURIA; PRACTICE GUIDELINE; PREGNANCY; REIMBURSEMENT; REVIEW; RISK MANAGEMENT; SCREENING; TRANSITION TO ADULT CARE;

EUROPE; FEMALE; HUMANS; MALE; MASS SCREENING; PHENYLKETONURIAS; STANDARD OF CARE;

EID: 84890265309     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-191     Document Type: Review

References (48)

1. Neonatal screening in Europe; the situation in 2004. Loeber JG, J Inherit Metab Dis 2007 30 430 438 (Pubitemid 47377038)
2. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. Scriver CR, Kaufman S, The Metabolic and Molecular Bases of Inherited Disease New York: McGraw-Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, Vogelstein B, 8 2001 1667 1724
3. Phenylketonuria. Blau N, van Spronsen FJ, Levy HL, Lancet 2010 376 1417 1427
4. Blau N, Phenylketonuria and BH4 deficiencies Bremen: Uni-Med 2010
5. Psychosocial aspects of PKU: hidden disabilities-a review. Gentile JK, Ten Hoedt AE, Bosch AM, Mol Genet Metab 2010 99 Suppl 1 64 S67
6. National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. National Institutes of Health Consensus Development Panel, Pediatrics 2001 108 972 982
7. There is no doubt that the early identification of PKU and prompt and continuous intervention prevents mental retardation in most patients. Blau N, MacDonald A, van Spronsen F, Mol Genet Metab 2011 104 Suppl 1
8. Phenylketonuria: nutritional advances and challenges. Giovannini M, Verduci E, Salvatici E, Paci S, Riva E, Nutr Metab (Lond) 2012 9 7
9. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Simon E, Schwarz M, Roos J, Dragano N, Geraedts M, Siegrist J, Kamp G, Wendel U, Health Qual Life Outcomes 2008 6 25
10. Optimizing the use of sapropterin (BH (4)) in the management of phenylketonuria. Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ, Mol Genet Metab 2009 96 158 163
11. Use of sapropterin in the management of phenylketonuria: seven case reports. GokmenOzel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Bélanger-Quintana A, MacDonald A, Dokoupil K, Mol Genet Metab in press
12. Future treatment strategies in phenylketonuria. van Spronsen FJ, Enns GM, Mol Genet Metab 2010 99 Suppl 1 90 S95
13. Management of phenylketonuria in Europe: survey results from 19 countries. Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F, Mol Genet Metab 2010 99 109 115
14. Blood phenylalanine control in phenylketonuria: a survey of 10 European centres. Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M, Eur J Clin Nutr 2011 65 275 278
15. European Society for Phenylketonuria and Allied Disorders: PKU, Closing the Gaps in Care. An ESPKU benchmark report on the management of phenylketonuria within EU healthcare economies http://www.espku.org/en/pku-in-europe
16. PKU-What is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders-ESPKU. van Spronsen FJ, Ahring KK, Gizewska M, J Inherit Metab Dis 2009 32 58 64
17. Dietary management practices in phenylketonuria across European centres. Ahring K, Bélanger-Quintana A, Dokoupil K, GokmenOzel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M, Clin Nutr 2009 28 231 236
18. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S, Health Technol Assess 2004 8 iii 1 121
19. X. Public Health England, The UK NSC policy on Phenylketonuria screening in newborns http://www.screening.nhs.uk/pku
20. Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study. Di Ciommo V, Forcella E, Cotugno G, J Dev Behav Pediatr 2012 33 229 235
21. The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. van Spronsen FJ, Burgard P, J Inherit Metab Dis 2008 31 673 679
22. Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, García-Cazorla A, Vilaseca MA, Ribes A, Artuch R, Campistol J, J Inherit Metab Dis 2010 33 1 7
23. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML, Ugarte M, Eur J Hum Genet 1999 7 386 392 (Pubitemid 29213746)
24. Towards self-monitoring and self-treatment in phenylketonuria-a way to better diet compliance. Wendel U, Langenbeck UL, Eur J Pediat 1996 155 Suppl 1 105 S107
25. "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial. Ten Hoedt AE, Hollak CE, Boelen CC, Van der Herberg-van de Wetering NA, Ter Horst NM, Jonkers CF, Wijburg FA, Bosch AM, Orphanet J Rare Dis 2011 6 48
26. European Union Committee of Experts on Rare Diseases, EUCERD Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States, 24 October 2011 http://www.EUCERD.eu/upload/file/ EUCERDRecommendationCE.pdf
27. Council of the European Union, Council recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02) http://eur-lex.europa. eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF
28. Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria? Macdonald A, Davies P, Daly A, Hopkins V, Hall SK, Asplin D, Hendriksz C, Chakrapani A, J Hum Nutr Diet 2008 21 351 358 (Pubitemid 352044728)
29. Impact of a camp experience on phenylalanine levels, knowledge, attitudes, and health beliefs relevant to nutrition management of phenylketonuria in adolescent girls. Singh RH, Kable JA, Guerrero NV, Sullivan KM, Elsas LJ 2nd, J Am Diet Assoc 2000 100 797 803
30. Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource. Durham-Shearer SJ, Judd PA, Whelan K, Thomas JE, J Human Nutr Dietetics 2008 21 474 485
31. Behavioural factors related to metabolic control in patients with phenylketonuria. Crone MR, van Spronsen FJ, Oudshoorn K, Bekhof J, van Rijn G, Verkerk PH, J Inherit Metab Dis 2005 28 627 637 (Pubitemid 41349249)
32. How practical are recommendations for dietary control in phenylketonuria? Walter JH, White FJ, Hall SK, MacDonald A, Rylance G, Boneh A, Francis DE, Shortland GJ, Schmidt M, Vail A, Lancet 2002 360 55 57 (Pubitemid 34756494)
33. Health care transition for youth with special health care needs. Bloom SR, Kuhlthau K, Van Cleave J, Knapp AA, Newacheck P, Perrin JM, J Adolesc Health 2012 51 213 219
34. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Simon E, Schwarz M, Roos J, Dragano N, Geraedts M, Siegrist J, Kamp G, Wendel U, Health Qual Life Outcomes 2008 26 6 25
35. Situational analysis of dietary challenges of the treatment regimen for children and adolescents with phenylketonuria and their primary caregivers. Ievers-Landis CE, Hoff AL, Brez C, Cancilliere MK, McConnell J, Kerr D, J Dev Behav Pediatr 2005 26 186 193 (Pubitemid 40917085)
36. Comfort of general internists and general pediatricians in providing care for young adults with chronic illnesses of childhood. Okumura MJ, Heisler M, Davis MM, Cabana MD, Demonner S, Kerr EA, J Gen Intern Med 2008 23 1621 1627
37. Adult issues in phenylketonuria. Hoeks MP, den Heijer M, Janssen MC, Neth J Med 2009 67 2 7
38. Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. Lee PJ, Ridout D, Walter JH, Cockburn F, Arch Dis Child 2005 90 143 146 (Pubitemid 40188009)
39. Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine-restricted diet? Gassió R, Campistol J, Vilaseca MA, Lambruschini N, Cambra FJ, Fusté E, Acta Paediatr 2003 92 1474 1478 (Pubitemid 38114499)
40. PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings. Anjema K, van Rijn M, Verkerk PH, Burgerhof JG, Heiner-Fokkema MR, van Spronsen FJ, Mol Genet Metab 2011 104 231 234
41. Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis. Hoeksma M, Reijngoud DJ, Pruim J, de Valk HW, Paans AM, van Spronsen FJ, Mol Genet Metab 2009 96 177 182
42. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. Pietz J, Kreis R, Rupp A, Mayatepek E, Rating D, Boesch C, Bremer HJ, J Clin Invest 1999 103 1169 1178 (Pubitemid 29207251)
43. Phenylalanine-restricted diet should be life long. A case report on long-term follow-up of an adolescent with untreated phenylketonuria. Merrick J, Aspler S, Schwarz G, Int J Adolesc Med Health 2003 15 165 168 (Pubitemid 37258979)
44. Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria. Kalkanoǧlu HS, Ahring KK, Sertkaya D, Møller LB, Romstad A, Mikkelsen I, Guldberg P, Lou HC, Güttler F, Acta Paediatr 2005 94 1218 1222 (Pubitemid 41510615)
45. Diet in phenylketonuria: a snapshot of special dietary costs and reimbursement systems in 10 international centers. Belanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM, MacDonald A, Motzfeldt K, Nowacka M, Robert M, van Rijn M, Ahring K, Mol Genet Metab 2012 105 390 394
46. Nutritional issues in treating phenylketonuria. Feillet F, Agostoni C, J Inherit Metab Dis 2010 33 659 664
47. Phenylketonuria management from an European perspective: a commentary. van Spronsen FJ, Mol Genet Metab 2010 100 107 110
48. National Institute for Health and Clinical Excellence, A patient's perspective on developing the coeliac disease guideline http://www.nice.org.uk/ getinvolved/patientandpublicinvolvement/patientcoeliacgd.jsp