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Daly A, Pinto A, Evans S, et al. Dietary practices in propionic acidemia: A European survey. Mol Genet Metab Rep. 2017;13:83-89doi: 10.1016/j.ymgmr.2017.09.002.
Daly, A., Pinto, A., Evans, S., Almeida, M. F., Assoun, M., Belanger-Quintana, A., Bernabei, S. M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund Hansen, K., Ter Horst, N. M., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G. E., Kok, I. L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J. C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L. H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Vande Kerckhove, K., van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F. J., White, L., Zweers, H., & MacDonald, A. (2017). Dietary practices in propionic acidemia: A European survey. Molecular genetics and metabolism reports, 1383-89. https://doi.org/10.1016/j.ymgmr.2017.09.002
Daly, A, et al. "Dietary practices in propionic acidemia: A European survey." Molecular genetics and metabolism reports vol. 13 (2017): 83-89. doi: https://doi.org/10.1016/j.ymgmr.2017.09.002
Daly A, Pinto A, Evans S, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Dalmau J, de Boer F, de Laet C, de Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Kaalund Hansen K, Ter Horst NM, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok IL, Kowalik A, Laguerre C, Le Verge S, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Vande Kerckhove K, van Dam E, van den Hurk T, van der Ploeg L, van Driessche M, van Rijn M, van Wegberg A, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White FJ, White L, Zweers H, MacDonald A. Dietary practices in propionic acidemia: A European survey. Mol Genet Metab Rep. 2017 Oct 03;13:83-89. doi: 10.1016/j.ymgmr.2017.09.002. eCollection 2017 Dec. PMID: 29021961; PMCID: PMC5633157.
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Mol Genet Metab Rep. 2017 Oct 03;13:83-89. doi: 10.1016/j.ymgmr.2017.09.002. eCollection 2017 Dec.

Dietary practices in propionic acidemia: A European survey.

Molecular genetics and metabolism reports

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

  1. Birmingham Women's and Children's Hospital, Birmingham, UK.
  2. Centro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, Portugal.
  3. Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, Porto, Portugal.
  4. Centro de Referência na área de Doenças Hereditárias do Metabolismo, Centro Hospitalar do Porto - CHP, Porto, Portugal.
  5. Centre de référence des maladies héréditaires du métabolisme, Hôpital Necker Enfants Malades, Paris, France.
  6. Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal Madrid, Spain.
  7. Children Hospital Bambino Gesù, Division of Artificial Nutrition, Rome, Italy.
  8. Univerisity Hospital Zurich, Switzerland.
  9. Metabolic Center, University Hospitals Leuven and KU Leuven, Belgium.
  10. Addenbrooke's Hospital, Cambridge, UK.
  11. Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  12. Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain.
  13. University of Groningen, University Medical Center Groningen, Netherlands.
  14. Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium.
  15. Center of Metabolic Diseases, University Hospital, Antwerp, Belgium.
  16. University Hospital Ghent, Belgium.
  17. Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, University Hospital of Verona, Italy.
  18. Great Ormond Street Hospital for Children NHS FoundationTrust, London, UK.
  19. Dr. von Hauner Children's Hospital, Munich, Germany.
  20. Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Portugal.
  21. Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padova, Italy.
  22. Reference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, France.
  23. Metabolic Centre of Vienna, Austria.
  24. Nottingham University Hospitals, UK.
  25. Charles Dent Metabolic Unit National Hospital for Neurology and Surgery, London, UK.
  26. Emma Children's Hospital, AMC, Amsterdam, Netherlands.
  27. Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK.
  28. Radboud University Medical Center Nijmegen, Netherlands.
  29. CHU Angers, France.
  30. Haukeland University Hospital, Bergen, Norway.
  31. Wilhelmina Children's Hospital, University Medical Centre Utrecht, Netherlands.
  32. Institute of Mother & Child, Warsaw, Poland.
  33. Centre de Compétence de L'Hôpital des Enfants de Toulouse, France.
  34. Oslo University Hospital, Norway.
  35. University Children's Hospital Zurich, Switzerland.
  36. Ernährungsmedizinische Beratung, Universitätsklinik für Kinder- und Jugendheilkunde, Salzburg, Austria.
  37. Clinic of Paediatric Kidney, Liver- and Metabolic Diseases, Medical School Hannover, Germany.
  38. University Children's Hospital, Munster, Germany.
  39. Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, Portugal.
  40. Centre for Health Technology and Services Research (CINTESIS), Portugal.
  41. Bradford Teaching Hospital NHS Foundation Trust, UK.
  42. Hospital of Children's & Adolescents, University of Leipzig, Germany.
  43. Royal Aberdeen Children's Hospital, Scotland.
  44. Centre de Reference des Maladies Héréditaires du Métabolisme du Pr. B. Chabrol CHU Timone Enfant, Marseille, France.
  45. Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany.
  46. University Hospital of Wales, Cardiff, UK.
  47. Children's Hospital, University Hospital, Lund, Sweden.
  48. Alder Hey Children's Hospital NHS Foundation Trust Liverpool, UK.
  49. Academisch Medisch Centrum, Amsterdam, Netherlands.
  50. University Hospitals Birmingham NHS Foundation Trust, UK.
  51. Maastricht University Medical Centre + (MUMC +), Netherlands.
  52. Centro Hospitalar São João - Unidade de Doenças Metabólicas, Porto, Portugal.
  53. National University Hospital, Copenhagen, Denmark.
  54. Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  55. Sheffield Children's Hospital, UK.

PMID: 29021961 PMCID: PMC5633157 DOI: 10.1016/j.ymgmr.2017.09.002

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: Natural protein; Precursor-free amino acids; Propionic acidemia; Protein restricted diet

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