Molecular Genetics and Metabolism Reports (Dec 2017)
Dietary practices in propionic acidemia: A European survey
- 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
Affiliations
- A. Daly
- Birmingham Women's and Children's Hospital, Birmingham, UK
- A. Pinto
- Birmingham Women's and Children's Hospital, Birmingham, UK
- S. Evans
- Birmingham Women's and Children's Hospital, Birmingham, UK
- M.F. Almeida
- Centro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, Portugal
- M. Assoun
- Centre de référence des maladies héréditaires du métabolisme, Hôpital Necker Enfants Malades, Paris, France
- A. Belanger-Quintana
- Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal Madrid, Spain
- S.M. Bernabei
- Children Hospital Bambino Gesù, Division of Artificial Nutrition, Rome, Italy
- S. Bollhalder
- Univerisity Hospital Zurich, Switzerland
- D. Cassiman
- Metabolic Center, University Hospitals Leuven and KU Leuven, Belgium
- H. Champion
- Addenbrooke's Hospital, Cambridge, UK
- H. Chan
- Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK
- J. Dalmau
- Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain
- F. de Boer
- University of Groningen, University Medical Center Groningen, Netherlands
- C. de Laet
- Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium
- A. de Meyer
- Center of Metabolic Diseases, University Hospital, Antwerp, Belgium
- A. Desloovere
- University Hospital Ghent, Belgium
- A. Dianin
- Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, University Hospital of Verona, Italy
- M. Dixon
- Great Ormond Street Hospital for Children NHS FoundationTrust, London, UK
- K. Dokoupil
- Dr. von Hauner Children's Hospital, Munich, Germany
- S. Dubois
- Centre de référence des maladies héréditaires du métabolisme, Hôpital Necker Enfants Malades, Paris, France
- F. Eyskens
- Center of Metabolic Diseases, University Hospital, Antwerp, Belgium
- A. Faria
- Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Portugal
- I. Fasan
- Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padova, Italy
- E. Favre
- Reference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, France
- F. Feillet
- Reference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, France
- A. Fekete
- Metabolic Centre of Vienna, Austria
- G. Gallo
- Children Hospital Bambino Gesù, Division of Artificial Nutrition, Rome, Italy
- C. Gingell
- Nottingham University Hospitals, UK
- J. Gribben
- Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK
- K. Kaalund Hansen
- Charles Dent Metabolic Unit National Hospital for Neurology and Surgery, London, UK
- N.M. Ter Horst
- Emma Children's Hospital, AMC, Amsterdam, Netherlands
- C. Jankowski
- Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK
- R. Janssen-Regelink
- Radboud University Medical Center Nijmegen, Netherlands
- I. Jones
- Center of Metabolic Diseases, University Hospital, Antwerp, Belgium
- C. Jouault
- CHU Angers, France
- G.E. Kahrs
- Haukeland University Hospital, Bergen, Norway
- I.L. Kok
- Wilhelmina Children's Hospital, University Medical Centre Utrecht, Netherlands
- A. Kowalik
- Institute of Mother & Child, Warsaw, Poland
- C. Laguerre
- Centre de Compétence de L'Hôpital des Enfants de Toulouse, France
- S. Le Verge
- Centre de référence des maladies héréditaires du métabolisme, Hôpital Necker Enfants Malades, Paris, France
- R. Lilje
- Oslo University Hospital, Norway
- C. Maddalon
- University Children's Hospital Zurich, Switzerland
- D. Mayr
- Ernährungsmedizinische Beratung, Universitätsklinik für Kinder- und Jugendheilkunde, Salzburg, Austria
- U. Meyer
- Clinic of Paediatric Kidney, Liver- and Metabolic Diseases, Medical School Hannover, Germany
- A. Micciche
- Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK
- U. Och
- University Children's Hospital, Munster, Germany
- M. Robert
- Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium
- J.C. Rocha
- Centro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, Portugal
- H. Rogozinski
- Bradford Teaching Hospital NHS Foundation Trust, UK
- C. Rohde
- Hospital of Children's & Adolescents, University of Leipzig, Germany
- K. Ross
- Royal Aberdeen Children's Hospital, Scotland
- I. Saruggia
- Centre de Reference des Maladies Héréditaires du Métabolisme du Pr. B. Chabrol CHU Timone Enfant, Marseille, France
- A. Schlune
- Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany
- K. Singleton
- University Hospital of Wales, Cardiff, UK
- E. Sjoqvist
- Children's Hospital, University Hospital, Lund, Sweden
- R. Skeath
- Great Ormond Street Hospital for Children NHS FoundationTrust, London, UK
- L.H. Stolen
- Oslo University Hospital, Norway
- A. Terry
- Alder Hey Children's Hospital NHS Foundation Trust Liverpool, UK
- C. Timmer
- Academisch Medisch Centrum, Amsterdam, Netherlands
- L. Tomlinson
- University Hospitals Birmingham NHS Foundation Trust, UK
- A. Tooke
- Nottingham University Hospitals, UK
- K. Vande Kerckhove
- Metabolic Center, University Hospitals Leuven and KU Leuven, Belgium
- E. van Dam
- University of Groningen, University Medical Center Groningen, Netherlands
- T. van den Hurk
- Wilhelmina Children's Hospital, University Medical Centre Utrecht, Netherlands
- L. van der Ploeg
- Maastricht University Medical Centre + (MUMC+), Netherlands
- M. van Driessche
- University Hospital Ghent, Belgium
- M. van Rijn
- University of Groningen, University Medical Center Groningen, Netherlands
- A. van Wegberg
- Radboud University Medical Center Nijmegen, Netherlands
- C. Vasconcelos
- Centro Hospitalar São João - Unidade de Doenças Metabólicas, Porto, Portugal
- H. Vestergaard
- National University Hospital, Copenhagen, Denmark
- I. Vitoria
- Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain
- D. Webster
- Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK
- F.J. White
- Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
- L. White
- Sheffield Children's Hospital, UK
- H. Zweers
- Radboud University Medical Center Nijmegen, Netherlands
- A. MacDonald
- Birmingham Women's and Children's Hospital, Birmingham, UK
- DOI
- https://doi.org/10.1016/j.ymgmr.2017.09.002
- Journal volume & issue
-
Vol. 13,
no. C
pp. 83 – 89
Abstract
Background: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. Aim: To describe European dietary practices in the management of patients with PA prior to the publication of the European PA guidelines. Methods: This was a cross-sectional survey consisting of 27 questions about the dietary practices in PA patients circulated to European IMD dietitians and health professionals in 2014. Results: Information on protein restricted diets of 186 PA patients from 47 centres, representing 14 European countries was collected. Total protein intake [PA precursor-free L-amino acid supplements (PFAA) and natural protein] met WHO/FAO/UNU (2007) safe protein requirements for age in 36 centres (77%). PFAA were used to supplement natural protein intake in 81% (n = 38) of centres, providing a median of 44% (14–83%) of total protein requirement. Seventy-four per cent of patients were prescribed natural protein intakes below WHO/FAO/UNU (2007) safe levels in one or more of the following age groups: 0–6 m, 7–12 m, 1–10 y, 11–16 y and >16 y. Sixty-three per cent (n = 117) of patients were tube fed (74% gastrostomy), but only 22% received nocturnal feeds. Conclusions: There was high use of PFAA with intakes of natural protein commonly below WHO/FAO/UNU (2007) safe levels. Optimal dietary management can only be determined by longitudinal, multi-centre, prospective case controlled studies. The metabolic instability of PA and small patient cohorts in each centre ensure that this is a challenging undertaking.
Keywords
