Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach

Molecular Genetics and Metabolism

Volumn 115, Issue 1, 2015, Pages 17-22

  Aguiar, A ^a   Ahring, K ^b   Almeida, M F ^c,d   Assoun, M ^e   Belanger Quintana, A ^f   Bigot, S ^g   Bihet, G ^h   Blom Malmberg, K ⁱ   Burlina, A ^j   Bushueva, T ^k   Caris, A ^l   Chan, H ^m   Clark, A ⁿ   Clark, S ^o   Cochrane, B ^p   Corthouts, K ^q   Dalmau, J ^r   Dassy, M ^s   De Meyer, A ^t   Didycz, B ^u   Diels, M ^q   Dokupil, K ^v   Dubois, S ^e   Eftring, K ^w   Ekengren, J ^w   Ellerton, C ^x   Evans, S ^y   Faria, A ^z   Fischer, A ^aa   Ford, S ^ab   Freisinger, P ^aa   Gizewska, M ^ac   Gokmen Ozel, H ^ad   Gribben, J ^m   Gunden, F ^ae   Heddrich Ellerbrok, M ^af   Heiber, S ^ag   Heidenborg, C ^ah   Jankowski, C ^ai   Janssen Regelink, R ^aj   Jones, I ^t   Jonkers, C ^ak   Joerg Streller, M ^al   Kaalund Hansen, K ^x   Kiss, E ^am   Lammardo, A M ^an   Lang, K ^ao   Lier, D ^aa   Lilje, R ^ap   Lowry, S ^aq   Luyten, K ^t   MacDonald, A ^y   Meyer, U ^ar   Moor, D ^as   Pal, A ^at   Robert, M ^au   Robertson, L ^av   Rocha, J C ^c,aw,ax   Rohde, C ^ay   Ross, K ^az   Saruhan, S ^ad   Sjoqvist E ^ba   Skeath, R ^bb   Stoelen, L ^ap   Ter Horst, N M ^bc   Terry, A ^bd   Timmer, C ^be   Tuncer, N ^bf   Vande Kerckhove, K ^q   van der Ploeg, L ^bg   van Rijn, M ^bh   van Spronsen, F J ^bh   van Teeffelen Heithoff, A ^bi   van Wegberg, A ^aj   van Wyk, K ^m   Vasconcelos, C ^bj   Vitoria, I ^r   Wildgoose, J ^bk   Webster, D ^ai   White, F J ^bl   Zweers, H ^aj   more..

^a Hospital de Santo Espirito da Ilha Terceira   (Portugal)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c CHP EPE ^*  (Portugal)

^d UMIB   (Portugal)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f HOSPITAL RAMÓN Y CAJAL   (Spain)

^g RENNES UNIVERSITY HOSPITAL   (France)

^h Centre Hospitalier Chretien   (Belgium)

ⁱ Akademiska University Hospital (Adult Centre)   (Sweden)

^j UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^k Russian Academy of Medical Sciences   (Russian Federation)

^l UNIVERSITY OF LIÈGE   (Belgium)

^m EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

ⁿ Department of Haematology   (Ireland)

^o ADDENBROOKE S HOSPITAL   (United Kingdom)

^p ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^q UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^r HOSPITAL UNIVERSITARIO LA FE   (Spain)

^s CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^t ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^u JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^v LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^w QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^x UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^y BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^z CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^aa Klinik für Kinder und Jugendmedizin Reutlingen   (Germany)

^ab NORTH BRISTOL NHS TRUST   (United Kingdom)

^ac POMERANIAN MEDICAL UNIVERSITY   (Poland)

^ad HACETTEPE UNIVERSITY   (Turkey)

^ae ULUDAG UNIVERSITY   (Turkey)

^af UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^ag UNIVERSITY HOSPITAL BASEL   (Switzerland)

^ah KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^ai UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^aj RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^ak ACADEMIC MEDICAL CENTER   (Netherlands)

^al INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^am SEMMELWEIS UNIVERSITY   (Hungary)

^an UNIVERSITY OF MILAN   (Italy)

^ao NINEWELLS HOSPITAL   (United Kingdom)

^ap OSLO UNIVERSITY HOSPITAL   (Norway)

^aq SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^ar HANNOVER MEDICAL SCHOOL   (Germany)

^as UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^at UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^au HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^av NORTHERN GENERAL HOSPITAL   (United Kingdom)

^aw UNIVERSIDADE FERNANDO PESSOA   (Portugal)

^ax UNIVERSITY OF PORTO   (Portugal)

^ay UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^az ROYAL ABERDEEN CHILDREN S HOSPITAL   (United Kingdom)

^ba LUND UNIVERSITY HOSPITAL   (Sweden)

^bb GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^bc Emmakinderziekenhuis AMC   (Netherlands)

^bd ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^be UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^bf DOKUZ EYLUL UNIVERSITY   (Turkey)

^bg MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^bh UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^bi UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^bj Centro Hospitalar Universitário de São João   (Portugal)

^bk BRADFORD TEACHING HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^bl MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

more..

Author keywords

Glycomacropeptide; L Amino acid supplements; Phenylketonuria; Protein substitute

Indexed keywords

AMINO ACID; CASEIN; CASEINOMACROPEPTIDE; PEPTIDE FRAGMENT; PHENYLALANINE; PROTEIN INTAKE;

AGE DISTRIBUTION; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL PRACTICE; CONSENSUS; CROSS-SECTIONAL STUDY; EASTERN EUROPE; EUROPE; HUMAN; INFANT DISEASE; MAJOR CLINICAL STUDY; NORTHERN EUROPEAN; PATIENT MONITORING; PHENYLKETONURIA; PRESCHOOL CHILD; PRESCRIPTION; PRIORITY JOURNAL; PROTEIN INTAKE; QUESTIONNAIRE; SCHOOL CHILD; SOUTHERN EUROPE; WESTERN EUROPE; ADMINISTRATION AND DOSAGE; ADULT; DIET THERAPY; DIETARY SUPPLEMENT; FEMALE; INFANT; MALE; NEWBORN; TURKEY; WORLD HEALTH ORGANIZATION;

ADULT; AMINO ACIDS; CASEINS; CHILD; CHILD, PRESCHOOL; DIETARY PROTEINS; DIETARY SUPPLEMENTS; EUROPE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEPTIDE FRAGMENTS; PHENYLALANINE; PHENYLKETONURIAS; SURVEYS AND QUESTIONNAIRES; TURKEY; WORLD HEALTH ORGANIZATION;

EID: 84933673160     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.03.006     Document Type: Article

References (40)

1. MacDonald A., Chakrapani A., Hendriksz C., Daly A., Davies P., Asplin D., et al. Protein substitute dosage in PKU: how much do young patients need?. Arch. Dis. Child. 2006, 91(7):588-593.
2. MacDonald A., Rylance G., Davies P., Asplin D., Hall S.K., Booth I.W. Administration of protein substitute and quality of control in phenylketonuria: a randomized study. J. Inherit. Metab. Dis. 2003, 26:319-326.
3. Crone M.R., van Spronsen F.J., Oudshoorn K., Bekhof J., van Rijn G., Verkerk P.H. Behavioural factors related to metabolic control in patients with phenylketonuria. J. Inherit. Metab. Dis. 2005, 28:627-637.
4. Duran G.P., Rohr F.J., Slonim A., Güttler F., Levy H.L. Necessity of complete intake of phenylalanine-free amino acid mixture for metabolic control of phenylketonuria. J. Am. Diet. Assoc. 1999, 99:1559-1563.
5. Pratt O.E. A new approach to the treatment of phenylketonuria. J. Ment. Defic. Res. 1980, 24:203-217.
6. Pardridge W.M. Blood-brain barrier carrier-mediated transport and brain. Metabolism of amino acids. Neurochem. Res. 1998, 23:635-644.
7. MacDonald A. Diet and compliance in phenylketonuria. Eur. J. Pediatr. 2000, 159(Suppl. 2):136-141.
8. Yi S., Singh R.H. Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst. Rev. Oct 8 2008, 4:CD004731.
9. Hennermann J.B., Roloff S., Gebauer C., Vetter B., von Arnim-Baas A., Monch E. Long-term treatment with tetrahydrobiopterin in phenylketonuria: Treatment strategies and prediction of long-term responders. Mol. Genet. Metab. 2012, 107:294-301.
10. FAO/WHO/UNU Protein and amino acid requirements in human nutrition. WHO Technical Report Series 935 2007, United Nations University.
11. Report of medical research council working party on phenylketonuria Recommendations on the dietary management of phenylketonuria. Arch. Dis. Child. 1993, 68(3):426-427.
12. Rocha J.C., Almeida M.F., Carmona C., Cardoso M.L., Borges N., Soares I., et al. The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients. Ann. Nutr. Metab. 2010, 56:207-211.
13. Acosta P.B., Yannicelli S. Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria. Acta Paediatr. Suppl. 1994, 407:66-67.
14. Kindt E., Motzfeldt K., Halvorsen S., Lie S.O. Is phenylalanine requirement in infants and children related to protein intake?. Br. J. Nutr. 1984, 51(3):435-442.
15. van Spronsen F.J., de Groot M.J., Hoeksma M., Reijngoud D.J., van Rijn M. Large neutral amino acids in the treatment of PKU: from theory to practice. J. Inherit. Metab. Dis. 2010, 33:671-676.
16. van Calcar S.C., MacLeod E.L., Gleason S.T., Etzel M.R., Clayton M.K., Wolff J.A., et al. Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. Am. J. Clin. Nutr. 2009, 89:1068-1077.
17. Solverson P., Murali S.G., Litscher S.J., Blank R.D., Ney D.M. Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet. PLoS ONE 2012, 7(9):e45165.
18. Solverson P., Murali S.G., Brinkman A.S., Brinkman A.S., Nelson D.W., Clayton M.K., et al. Glycomacropeptide, a low-phenylalanine protein isolated from cheese whey, supports growth and attenuates metabolic stress in the murine model of phenylketonuria. Am. J. Physiol. Endocrinol. Metab. 2012, 302:E885-E895.
19. Jones B.J., Lees R., Andrews J., Frost P., Silk D.B. Comparison of an elemental and polymeric enteral diet in patients with normal gastrointestinal function. Gut 1983, 24:78-84.
20. Daenzer M., Petzke K.J., Bequette B.J., Metges C.C. Whole-body nitrogen and splanchnic amino acid metabolism differ in rats fed mixed diets containing casein or its corresponding amino acid mixture. J. Nutr. 2001, 131:1965-1972.
21. Gropper S.S., Acosta P.B. Effect of simultaneous ingestion of l-amino acids and whole protein on plasma amino acid and urea nitrogen concentrations in humans. J. Parenter. Enter. Nutr. 1991, 15:48-53.
22. Przyrembel H. Recommendations for protein and amino acid intake in phenylketonuria patients. Eur. J. Pediatr. 1996, 155(Suppl. 1):130-131.
23. Ahring K., Bélanger-Quintana A., Dokoupil K., Gokmen Ozel H., Lammardo A.M., MacDOnald A., et al. Dietary management practices in phenylketonuria across European centres. Clin. Nutr. 2009, 28:231-236.
24. van Rijn M., Hoeksma M., Sauer P., Szczerbak B., Gross M., Reijngoud D.J., et al. Protein metabolism in adult patients with phenylketonuria. Nutrition 2007, 23:445-453.
25. FAO Dietary protein quality evaluation in human nutrition. Report of an FAO Expert Consultation. From a meeting on 31-2 April, 2011. Auckland, New Zealand. FOA Food and Nutrition Paper 92 2013.
26. Dokoupil K., Gokmen-Ozel H., Motzfeldt K., Lammardo A.M., Robert M., Rocha J.C., et al. Optimising growth in phenylketonuria: current state of the clinical evidence base. Clin. Nutr. 2012, 31:16-21.
27. Hoeksma M., Van Rijn M., Verkerk P.H., Bosch A.M., Mulder M.F., de Klerk J.B., et al. The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J. Inherit. Metab. Dis. 2005, 28:845-854.
28. FAO/WHO/UNU Energy and protein requirements. Report of a Joint FAO/WHO/UNU Expert Consultation. WHO Technical Report Series 725, WHO 1985, WHO, Geneva.
29. Gropper S.S., Smith J.L. Advanced Nutrition and Human Metabolism 2013, 183-244. Wadsworth, Cengage Learning, California USA.
30. Mönch E., Herrmann M.E., Brösicke H., Schöffer A., Keller M. Utilisation of amino acid mixtures in adolescents with phenylketonuria. Eur. J. Pediatr. 1996, 155(Suppl. 1):115-120.
31. Evans S., Daly A., MacDonald J., Preece M.A., Santra S., Vijay S., et al. The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge. Ann. Nutr. Metab. 2014, 65:42-48.
32. Acosta P.B., Matalon K.M. Nutrition management of patients with inherited disorders of aromatic amino acid metabolism. Nutrition Management of Patients With Inherited Metabolic Disorders 2010, Jones and Bartlett, Boston. P.B. Acosta (Ed.).
33. MacDonald A., Harris G., Rylance G., Asplin D., Booth I.W. Abnormal feeding behaviours in phenylketonuria. J. Hum. Nutr. Diet. 1997, 10:163-170.
34. Hennermann J.B., Roloff S., Gellermann J., Vollmer I., Windt E., Vetter B., et al. Chronic kidney disease in adolescent and adult patients with phenylketonuria. J. Inherit. Metab. Dis. 2013, 36:747-756.
35. Manz F., Schmidt H., Scharer K., Bickel A. Acid-base status in dietary treatment of phenylketonuria. Pediatr. Res. 1977, 11:1084-1087.
36. Hansen K.E., Ney D. A systematic review of bone mineral density and fractures in phenylketonuria. J. Inherit. Metab. Dis. 2014, 37:875-880.
37. Weber M., Grote V., Closa-Monasterolo R., Escribano J., Langhendries J.P., Dain E., et al. Lower protein content in infant formula reduces BMI and obesity risk at school age: follow-up of a randomized trial. European childhood obesity trial study group. Am. J. Clin. Nutr. 2014, 99:1041-1051.
38. Burrage L.C., McConnell J., Haesler R., O'Riordan M.A., Sutton V.R., Kerr D.S., et al. High prevalence of overweight and obesity in females with phenylketonuria. Mol. Genet. Metab. 2012, 107:43-48.
39. Robertson L.V., McStravick N., Ripley S., Weetch E., Donald S., Adam S., et al. Body mass index in adult patients with diet-treated phenylketonuria. J. Hum. Nutr. Diet. 2013, 26(Suppl. 1):1-6.
40. Gokmen Ozel H., Ahring K., Bélanger-Quintana A. Overweight and obesity in PKU: the results from 8 centres in Europe and Turkey. Mol. Genet. Metab. Rep. 2014, 1:483-486.