Molecular Genetics and Metabolism Reports (Sep 2018)
Early feeding practices in infants with phenylketonuria across Europe
- 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
Affiliations
- A. Pinto
- Birmingham Women's and Children's Hospital, Birmingham, UK; Corresponding author at: Dietetic Department, Birmingham Women's and Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
- S. Adams
- Royal Victoria Infirmary, Newcastle, UK
- K. Ahring
- Department of PKU, Kennedy Centre, Copenhagen University Hospital, Glostrup, Denmark
- H. Allen
- Sheffield Children's NHS Foundation Trust, UK
- M.F. Almeida
- Centro de Genética Médica, Centro Hospitalar do Porto (CHP), Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, Porto, Portugal; Centro de Referência na área de Doenças Hereditárias do Metabolismo, Centro Hospitalar do Porto - CHP, Porto, Portugal
- D. Garcia-Arenas
- Congenital and Metabolic Disease Unit, Gastroenterology, Hepatology and Pediatric Nutrition Unit, Sant Joan de Déu Hospital, Barcelona, Spain
- N. Arslan
- Dokuz Eylul University Faculty of Medicine, Division of Pediatric Metabolism and Nutrition, Izmır, Turkey
- M. Assoun
- Centre de référence des maladies héréditaires du métabolisme, Hôpital Necker enfants Malades, Paris, France
- Y. Atik Altınok
- Pediatric Metabolism Department, Ege University Medical Faculty, Izmir, Turkey
- D. Barrio-Carreras
- Unidad de Enfermedades Mitocondriales-Metabolicas Hereditarias. Servicio de Pediatría, Hospital 12 de Octubre, Madrid, Spain
- A. Belanger Quintana
- Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal Madrid, Spain
- S.M. Bernabei
- Children's Hospital Bambino Gesù, Division of Artificial Nutrition, Rome, Italy
- C. Bontemps
- CHRU Clocheville Tours, France
- F. Boyle
- National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Ireland
- G. Bruni
- Meyer Children's Hospital, Florence, Italy
- M. Bueno-Delgado
- Children's Hospital Virgen del Rocío, Seville, Spain
- G. Caine
- Mid Yorks NHS Trust, UK
- R. Carvalho
- Hospital Divino Espírito Santo, Ponta Delgada, Portugal
- A. Chrobot
- Children Voievodship Hospital, Bydgoszcz, Poland
- K. Chyż
- Institute of Mother and Child, Warsaw, Poland
- B. Cochrane
- Royal Hospital for Children, Glasgow, UK
- C. Correia
- CHLC- Hospital Dona Estefânia, Lisboa, Portugal
- K. Corthouts
- University hospital Leuven, Belgium
- A. Daly
- Birmingham Women's and Children's Hospital, Birmingham, UK
- S. De Leo
- Department of Human Neuroscience, Sapienza University of Rome - Policlinico Umberto I of Rome, Italy
- A. Desloovere
- University hospital Ghent, Belgium
- A. De Meyer
- Center of Metabolic Diseases, University Hospital, Antwerp, Belgium
- A. De Theux
- IPG (Institut de Pathologie et de Genetique), Charleroi, Belgium
- B. Didycz
- University Children's Hospital, Cracow, Poland
- M.E. Dijsselhof
- AMC Amsterdam, Emma Children's Hospital, Netherlands
- K. Dokoupil
- Dr. von Hauner Children's Hospital of the University of Munich, Germany
- J. Drabik
- University Clinical Center in Gdansk, Poland
- C. Dunlop
- Royal Hospital for Children Edinburgh, UK
- W. Eberle-Pelloth
- Universitäts-Kinderklinik Würzburg, Germany
- K. Eftring
- Queen Silivia's Children's Hospital Gothenburg, Sweden
- J. Ekengren
- Queen Silivia's Children's Hospital Gothenburg, Sweden
- I. Errekalde
- Hospital Universitario de Cruces, Vizcaya, Spain
- S. Evans
- Birmingham Women's and Children's Hospital, Birmingham, UK
- A. Foucart
- Cliniques universitaires Saint-Luc, Belgium
- L. Fokkema
- UMC Utrecht, Wilhelmina Children's Hospital, Netherlands
- L. François
- Hôpital Universitaire Robert-Debré, Centre de référence des maladies héréditaires du métabolisme, Paris, France
- M. French
- University Hospitals of Leicester NHS Trust, UK
- E. Forssell
- Karolinska University Hospital, Stockholm, Sweden
- C. Gingell
- Nottingham Children's Hospital, UK
- C. Gonçalves
- Hospital Central do Funchal, Portugal
- H. Gökmen Özel
- Hacettepe University, İhsan Doğramacı Children's Hospital, Turkey
- A. Grimsley
- Royal Belfast Hospital for Sick Children, Northern Ireland, UK
- G. Gugelmo
- Department of Pediatrics, Inherited Metabolic Diseases Unit, University Hospital of Verona, Italy
- E. Gyüre
- Albert Szent-Györgyi Clinical Centre, Hungary
- C. Heller
- Kinder- und Jugendklinik Erlangen, Germany
- R. Hensler
- Klinikum Stuttgart Olgahospital, Germany
- I. Jardim
- Centro Hospitalar Lisboa Norte - H. Sta Maria - Unidade de Doenças Metabólicas, Portugal
- C. Joost
- University Children's Hospital, University Medical Center Hamburg Eppendorf, Germany
- M. Jörg-Streller
- Universitätsklinik Innsbruck department für Kinder- und Jugendheilkunde, Austria
- C. Jouault
- CHU Angers, France
- A. Jung
- Charite, Virchow Klinikum Berlin, Germany
- M. Kanthe
- Skane University Hospital, Sweden
- N. Koç
- University of Health Sciences, Ankara Child's Health and Diseases Hematology Oncology Training and Research Hospital, Turkey
- I.L. Kok
- UMC Utrecht, Wilhelmina Children's Hospital, Netherlands
- T. Kozanoğlu
- İstanbul University İstanbul Faculty of Medicine, Turkey
- B. Kumru
- Gaziantep Cengiz Gökçek Maternity and Children's Hospital, Turkey
- F. Lang
- University Hospital Mainz, Villa metabolica, Germany
- K. Lang
- Ninewells Hospital, Dundee, UK
- I. Liegeois
- CHRU Nancy Hospital D'enfants, France
- A. Liguori
- Children's Hospital Bambino Gesù, Division of Artificial Nutrition, Rome, Italy
- R. Lilje
- Oslo University Hospital, Norway
- O. Ļubina
- Children's Clinical University Hospital, Riga, Latvia
- P. Manta-Vogli
- Inborn Errors of Metabolism Department, Institute of Child Health, Athens, Greece
- D. Mayr
- Universitätsklinik für Jugend und Kinderheilkunde, Müllner Hauptstr, Salzburg, Austria
- C. Meneses
- Hospital de Santo Espírito da Ilha Terceira, EPER, Portugal
- C. Newby
- Bristol Royal Hospital for Children, UK
- U. Meyer
- Medical School Hannover, Clinic for Paediatric Kidney- Liver and Metabolic Diseases, Germany
- S. Mexia
- Centro Hospitalar Lisboa Norte - H. Sta Maria - Unidade de Doenças Metabólicas, Portugal
- C. Nicol
- Royal Victoria Infirmary, Newcastle, UK
- U. Och
- University Hospital Muenster, Center for Pediatrics, Metabolic Department, Germany
- S.M. Olivas
- Congenital and Metabolic Disease Unit, Gastroenterology, Hepatology and Pediatric Nutrition Unit, Sant Joan de Déu Hospital, Barcelona, Spain
- C. Pedrón-Giner
- Hospital Infantil Universitario Niño Jesús, Madrid, Spain
- R. Pereira
- Norfolk & Norwich Hospital, UK
- K. Plutowska-Hoffmann
- The Independent Public Clinical Hospital, No. 6 of the Medical University of Silesia in Katowice John Paul II Upper Silesian Child Health Centre, Poland
- J. Purves
- Royal Hospital for Children Edinburgh, UK
- A. Re Dionigi
- Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Italy
- K. Reinson
- Tartu University Hospital, Estonia
- M. Robert
- Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium
- L. Robertson
- Royal Hospital for Children Edinburgh, UK
- J.C. Rocha
- Centro de Genética Médica, Centro Hospitalar do Porto (CHP), Porto, Portugal; Centro de Referência na área de Doenças Hereditárias do Metabolismo, Centro Hospitalar do Porto - CHP, Porto, Portugal; Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, Portugal; Centre for Health Technology and Services Research (CINTESIS), Portugal
- C. Rohde
- Hospital for Children and Adolescents, Department of Women and Child Health, University Hospitals, University of Leipzig, Germany
- S. Rosenbaum-Fabian
- Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center – University of Freiburg, Faculty of Medicine, Freiburg, Germany
- A. Rossi
- Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Woman's and Child's Health, University Hospital of Padua, Italy
- M. Ruiz
- Hospital Universitario Nuestra Señora de Candelaria, Tenerife, Spain
- J. Saligova
- Children's Faculty Hospital, Kosice, Slovakia
- A. Gutiérrez-Sánchez
- Congenital and Metabolic Disease Unit, Gastroenterology, Hepatology and Pediatric Nutrition Unit, Sant Joan de Déu Hospital, Barcelona, Spain
- A. Schlune
- Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany
- K. Schulpis
- Inborn Errors of Metabolism Department, Institute of Child Health, Athens, Greece
- J. Serrano-Nieto
- HRU Málaga, Spain
- A. Skarpalezou
- Institute of Child Health, ''A. Sophia'' Children's Hospital, Athens, Greece
- R. Skeath
- Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- A. Slabbert
- Evelina Children's Hospital, Guy's & St. Thomas' NHS Foundation Trust, London, UK
- K. Straczek
- Clinic of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age Pomeranian Medica University, Poland
- M. Giżewska
- Clinic of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age Pomeranian Medica University, Poland
- A. Terry
- Alder Hey Children's NHS Foundation Trust, Liverpool, UK
- R. Thom
- Royal Belfast Hospital for Sick Children, Northern Ireland, UK
- A. Tooke
- Nottingham Children's Hospital, UK
- J. Tuokkola
- Clinical Nutrition Unit, Internal Medicine and Rehabilitation and Pediatric Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland
- E. van Dam
- University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Dietetics, Groningen, Netherlands.
- T.A.M. van den Hurk
- UMC Utrecht, Wilhelmina Children's Hospital, Netherlands
- E.M.C. van der Ploeg
- Maastricht University Medical Centre, Maastricht, Netherlands
- K. Vande Kerckhove
- University hospital Leuven, Belgium
- M. Van Driessche
- University hospital Ghent, Belgium
- A.M.J. van Wegberg
- Department of Gastroenterology and Hepatology - Dietetics, Radboud University Medical Centre, Nijmegen, Netherlands
- K. van Wyk
- Manchester University NHS Foundation Trust, UK
- C. Vasconcelos
- Centro Hospitalar São João, Porto, Portugal
- V. Velez García
- Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain
- J. Wildgoose
- Bradford Teaching Hospitals St Lukes, UK
- T. Winkler
- Klinik für Kinder- und Jugendmedizin, Carl-Thiem-Klinikum gGmbH Cottbus, Germany
- J. Żółkowska
- Institute of Mother and Child, Warsaw, Poland
- J. Zuvadelli
- Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Italy
- A. MacDonald
- Birmingham Women's and Children's Hospital, Birmingham, UK
- Journal volume & issue
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Vol. 16
pp. 82 – 89
Abstract
Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. Methods: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions. Results: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, ≥26 weeks in 12% and < 17 weeks in 3%. Discussion: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding development. Keywords: Breastfeeding, Infant practices, Phenylketonuria, Phenylalanine, Phe-free infant formula
