A Aguiar1, K Ahring2, M F Almeida3, M Assoun4, A Belanger Quintana5, S Bigot6, G Bihet7, K Blom Malmberg8, A Burlina9, T Bushueva10, A Caris11, H Chan12, A Clark13, S Clark14, B Cochrane15, K Corthouts16, J Dalmau17, M Dassy18, A De Meyer19, B Didycz20, M Diels21, K Dokupil22, S Dubois4, K Eftring23, J Ekengren23, C Ellerton24, S Evans25, A Faria26, A Fischer27, S Ford28, P Freisinger27, M Giżewska29, H Gokmen-Ozel30, J Gribben12, F Gunden31, M Heddrich-Ellerbrok32, S Heiber33, C Heidenborg34, C Jankowski35, R Janssen-Regelink36, I Jones19, C Jonkers37, M Joerg-Streller38, K Kaalund-Hansen24, E Kiss39, A M Lammardo40, K Lang41, D Lier27, R Lilje42, S Lowry43, K Luyten19, A MacDonald44, U Meyer45, D Moor46, A Pal47, M Robert48, L Robertson49, J C Rocha50, C Rohde51, K Ross52, S Saruhan30, E Sjöqvist53, R Skeath54, L Stoelen42, N M Ter Horst55, A Terry56, C Timmer57, N Tuncer58, K Vande Kerckhove16, L van der Ploeg59, M van Rijn60, F J van Spronsen60, A van Teeffelen-Heithoff61, A van Wegberg36, K van Wyk12, C Vasconcelos62, I Vitoria17, J Wildgoose63, D Webster35, F J White64, H Zweers36. 1. Hospital de Santo Espirito da Ilha Terceira, Portugal. 2. Kennedy Centre, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Glostrup, Denmark. 3. Centro de Genética Médica Doutor Jacinto de Magalhães, CHP EPE, Porto, Portugal; Multidisciplinary Unit for Biomedical Research, UMIB-FCT, Porto, Portugal. 4. Service des Maladies Héréditaires du Métabolisme, Hospital Necker Enfants Malades, Paris, France. 5. Hospital Ramon y Cajal Madrid, Spain. 6. Centre Hospitalier Universitaire de Rennes, France. 7. Centre Hospitalier Chrétien, Centre Pinocchio Liège, Belgium. 8. Akademiska University Hospital (Adult Centre), Sweden. 9. Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padova, Italy. 10. Scientific Center of Children's Health, Moscow, Russian Federation. 11. Centre Wallon de Génétique Humaine, Maladies Métaboliques, CHU de Liège Sart-Tilman, Belgium. 12. Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK. 13. National Centre for Inherited Metabolic Disorders, Dublin, Ireland. 14. Addenbrooke's Hospital, Cambridge, UK. 15. Royal Hospital for Sick Children, Glasgow, Scotland, UK. 16. University Hospitals Leuven, Center of Metabolic Diseases, Leuven, Belgium. 17. Hospital La Fe, Valencia, Spain. 18. Cliniques Universitaires St Luc, Brussels, Belgium. 19. Center of Metabolic Diseases, University Hospital, Antwerp, Belgium. 20. University Children's Hospital, Cracow, Poland. 21. University Hospitals Leuven, Center of Metabolic Diseases, ZOL, Genk, Belgium. 22. Dr. von Hauner Children's Hospital, Munich, Germany. 23. Queen Silvia's Children Hospital, Gothenburg, Sweden. 24. University College London Hospitals, UK. 25. Birmingham Children's Hospital, Birmingham, UK. 26. Hospital Pediatrico, Centro Hospitalar e Universitário de Coimbra, EPE, Portugal. 27. Klinikum am Steinenberg, Klinik für Kinder- und Jugendmedizin Reutlingen, Germany. 28. North Bristol NHS Trust Southmead and Frenchay, UK. 29. Pomeranian Medical University, Szczecin, Poland. 30. Haccettepe University Children's Hospital, Ankara, Turkey. 31. Uludag University Medical Faculty, Bursa, Turkey. 32. Universitätsklinikum Hamburg-Eppendorf, Germany. 33. University Hospital, Basel, Switzerland. 34. Karolinska University Hospital, Stockholm, Sweden. 35. University Hospitals Bristol NHS Foundation Trust, UK. 36. Radboud University Nijmegen Medical Centre, Netherlands. 37. Academic Medical Hospital, Amsterdam, Netherlands. 38. Medical University of Innsbruck, Clinic for Pediatrics, Inherited Metabolic Disorders, Austria. 39. Semmelweis University, Hungary. 40. San Paolo Hospital, University of Milan, Italy. 41. Ninewells Hospital, Dundee, Scotland, UK. 42. Oslo University Hospital Rikshospitalet, Norway. 43. Sheffield Children's NHS Foundation Trust, Sheffield, UK. 44. Birmingham Children's Hospital, Birmingham, UK. Electronic address: anita.macdonald@bch.nhs.uk. 45. Clinic of Paediatric Kidney, Liver and Metabolic Diseases Medical School Hannover, Germany. 46. Kinderspital Zürich, Switzerland. 47. Akademiska University Hospital (Children's Centre), Sweden. 48. Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium. 49. Northern General Hospital, Sheffield, UK. 50. Centro de Genética Médica Doutor Jacinto de Magalhães, CHP EPE, Porto, Portugal; Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, Porto, Portugal; Center for Health Technology and Services Research (CINTESIS), Portugal. 51. Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Germany. 52. Royal Aberdeen Children's Hospital, Scotland, UK. 53. Children's Hospital, University Hospital Skåne, Sweden. 54. Great Ormond Street Hospital for Children NHS Trust, London, UK. 55. Emmakinderziekenhuis AMC, Netherlands. 56. Alderhey Children's Hospital, Liverpool, UK. 57. UMC, Utrecht, Netherlands. 58. Dokuz Eylül University Nevvar-Salih İşgören Children Hospital, Turkey. 59. University Hospital Maastricht, Netherlands. 60. University of Groningen, University Medical Center, Groningen, Netherlands. 61. Univ.-Kinderklinik, Pädiatrische Diätetik, Munster, Germany. 62. Centro Hospitalar São João - Unidade de Doenças Metabólicas, Porto, Portugal. 63. Bradford Teaching Hospital NHS Trust, UK. 64. Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Abstract
BACKGROUND: There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics. RESULTS: The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n=24 centres) (infants <1 year, >2-3g/kg/day; 1-3 years of age, >2-3 g/kg/day; 4-10 years of age, >1.5-2.5 g/kg/day) and Southern Europe (n=10 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, 2 g/kg/day; 4-10 years of age, 1.5-2 g/kg/day), than by Eastern Europe (n=4 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, >2-2.5 g/kg/day; 4-10 years of age, >1.5-2 g/kg/day) and with Western Europe (n=25 centres) giving the least (infants <1 year, >2-2.5 g/kg/day, 1-3 years of age, 1.5-2 g/kg/day; 4-10 years of age, 1-1.5 g/kg/day). Total protein prescription was similar in patients aged >10 years (1-1.5 g/kg/day) and maternal patients (1-1.5 g/kg/day). CONCLUSIONS: The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.
BACKGROUND: There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age, administration frequency and method, monitoring, and type of protein substitute. Data were analysed by European region using descriptive statistics. RESULTS: The amount of total protein (from PS and natural/intact protein) varied according to the European region. Higher median amounts of total protein were prescribed in infants and children in Northern Europe (n=24 centres) (infants <1 year, >2-3g/kg/day; 1-3 years of age, >2-3 g/kg/day; 4-10 years of age, >1.5-2.5 g/kg/day) and Southern Europe (n=10 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, 2 g/kg/day; 4-10 years of age, 1.5-2 g/kg/day), than by Eastern Europe (n=4 centres) (infants <1 year, 2.5 g/kg/day, 1-3 years of age, >2-2.5 g/kg/day; 4-10 years of age, >1.5-2 g/kg/day) and with Western Europe (n=25 centres) giving the least (infants <1 year, >2-2.5 g/kg/day, 1-3 years of age, 1.5-2 g/kg/day; 4-10 years of age, 1-1.5 g/kg/day). Total protein prescription was similar in patients aged >10 years (1-1.5 g/kg/day) and maternal patients (1-1.5 g/kg/day). CONCLUSIONS: The amounts of total protein prescribed varied between European countries and appeared to be influenced by geographical region. In PKU, all gave higher than the recommended 2007 WHO/FAO/UNU safe levels of protein intake for the general population.
Authors: M J Pena; M F de Almeida; E van Dam; K Ahring; A Bélanger-Quintana; K Dokoupil; H Gokmen-Ozel; A M Lammardo; A MacDonald; M Robert; J C Rocha Journal: Eur J Clin Nutr Date: 2016-04-27 Impact factor: 4.016
Authors: A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen Journal: Orphanet J Rare Dis Date: 2017-10-12 Impact factor: 4.123
Authors: A MacDonald; A M J van Wegberg; K Ahring; S Beblo; A Bélanger-Quintana; A Burlina; J Campistol; T Coşkun; F Feillet; M Giżewska; S C Huijbregts; V Leuzzi; F Maillot; A C Muntau; J C Rocha; C Romani; F Trefz; F J van Spronsen Journal: Orphanet J Rare Dis Date: 2020-06-30 Impact factor: 4.123
Authors: A Daly; A Pinto; S Evans; M F Almeida; M Assoun; A Belanger-Quintana; S M Bernabei; S Bollhalder; D Cassiman; H Champion; H Chan; J Dalmau; F de Boer; C de Laet; A de Meyer; A Desloovere; A Dianin; M Dixon; K Dokoupil; S Dubois; F Eyskens; A Faria; I Fasan; E Favre; F Feillet; A Fekete; G Gallo; C Gingell; J Gribben; K Kaalund Hansen; N M Ter Horst; C Jankowski; R Janssen-Regelink; I Jones; C Jouault; G E Kahrs; I L Kok; A Kowalik; C Laguerre; S Le Verge; R Lilje; C Maddalon; D Mayr; U Meyer; A Micciche; U Och; M Robert; J C Rocha; H Rogozinski; C Rohde; K Ross; I Saruggia; A Schlune; K Singleton; E Sjoqvist; R Skeath; L H Stolen; A Terry; C Timmer; L Tomlinson; A Tooke; K Vande Kerckhove; E van Dam; T van den Hurk; L van der Ploeg; M van Driessche; M van Rijn; A van Wegberg; C Vasconcelos; H Vestergaard; I Vitoria; D Webster; F J White; L White; H Zweers; A MacDonald Journal: Mol Genet Metab Rep Date: 2017-10-03
Authors: A Pinto; M Alfadhel; R Akroyd; Y Atik Altınok; S M Bernabei; L Bernstein; G Bruni; G Caine; E Cameron; R Carruthers; B Cochrane; A Daly; F de Boer; S Delaunay; A Dianin; M Dixon; E Drogari; S Dubois; S Evans; J Gribben; G Gugelmo; C Heidenborg; I Hunjan; I L Kok; B Kumru; A Liguori; D Mayr; E Megdad; U Meyer; R B Oliveira; A Pal; A Pozzoli; R Pretese; J C Rocha; S Rosenbaum-Fabian; J Serrano-Nieto; E Sjoqvist; C Timmer; L White; T van den Hurk; M van Rijn; H Zweers; M Ziadlou; A MacDonald Journal: Orphanet J Rare Dis Date: 2018-01-25 Impact factor: 4.123
Authors: Kirsten K Ahring; Allan M Lund; Erik Jensen; Thomas G Jensen; Karen Brøndum-Nielsen; Michael Pedersen; Allan Bardow; Jens Juul Holst; Jens F Rehfeld; Lisbeth B Møller Journal: J Nutr Metab Date: 2018-01-08
Authors: A Pinto; S Adams; K Ahring; H Allen; M F Almeida; D Garcia-Arenas; N Arslan; M Assoun; Y Atik Altınok; D Barrio-Carreras; A Belanger Quintana; S M Bernabei; C Bontemps; F Boyle; G Bruni; M Bueno-Delgado; G Caine; R Carvalho; A Chrobot; K Chyż; B Cochrane; C Correia; K Corthouts; A Daly; S De Leo; A Desloovere; A De Meyer; A De Theux; B Didycz; M E Dijsselhof; K Dokoupil; J Drabik; C Dunlop; W Eberle-Pelloth; K Eftring; J Ekengren; I Errekalde; S Evans; A Foucart; L Fokkema; L François; M French; E Forssell; C Gingell; C Gonçalves; H Gökmen Özel; A Grimsley; G Gugelmo; E Gyüre; C Heller; R Hensler; I Jardim; C Joost; M Jörg-Streller; C Jouault; A Jung; M Kanthe; N Koç; I L Kok; T Kozanoğlu; B Kumru; F Lang; K Lang; I Liegeois; A Liguori; R Lilje; O Ļubina; P Manta-Vogli; D Mayr; C Meneses; C Newby; U Meyer; S Mexia; C Nicol; U Och; S M Olivas; C Pedrón-Giner; R Pereira; K Plutowska-Hoffmann; J Purves; A Re Dionigi; K Reinson; M Robert; L Robertson; J C Rocha; C Rohde; S Rosenbaum-Fabian; A Rossi; M Ruiz; J Saligova; A Gutiérrez-Sánchez; A Schlune; K Schulpis; J Serrano-Nieto; A Skarpalezou; R Skeath; A Slabbert; K Straczek; M Giżewska; A Terry; R Thom; A Tooke; J Tuokkola; E van Dam; T A M van den Hurk; E M C van der Ploeg; K Vande Kerckhove; M Van Driessche; A M J van Wegberg; K van Wyk; C Vasconcelos; V Velez García; J Wildgoose; T Winkler; J Żółkowska; J Zuvadelli; A MacDonald Journal: Mol Genet Metab Rep Date: 2018-08-08