Dietary practices in propionic acidemia: A European survey
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2017-12-01
|
| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426917301350 |
| _version_ | 1819267020541132800 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | A. Daly |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-23T21:10:32Z |
| format | Article |
| id | doaj.art-0cdc119d4cb043f7a29604303da07a36 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-23T21:10:32Z |
| publishDate | 2017-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-0cdc119d4cb043f7a29604303da07a362022-12-21T17:31:05ZengElsevierMolecular Genetics and Metabolism Reports2214-42692017-12-0113C838910.1016/j.ymgmr.2017.09.002Dietary practices in propionic acidemia: A European surveyA. Daly0A. Pinto1S. Evans2M.F. Almeida3M. Assoun4A. Belanger-Quintana5S.M. Bernabei6S. Bollhalder7D. Cassiman8H. Champion9H. Chan10J. Dalmau11F. de Boer12C. de Laet13A. de Meyer14A. Desloovere15A. Dianin16M. Dixon17K. Dokoupil18S. Dubois19F. Eyskens20A. Faria21I. Fasan22E. Favre23F. Feillet24A. Fekete25G. Gallo26C. Gingell27J. Gribben28K. Kaalund Hansen29N.M. Ter Horst30C. Jankowski31R. Janssen-Regelink32I. Jones33C. Jouault34G.E. Kahrs35I.L. Kok36A. Kowalik37C. Laguerre38S. Le Verge39R. Lilje40C. Maddalon41D. Mayr42U. Meyer43A. Micciche44U. Och45M. Robert46J.C. Rocha47H. Rogozinski48C. Rohde49K. Ross50I. Saruggia51A. Schlune52K. Singleton53E. Sjoqvist54R. Skeath55L.H. Stolen56A. Terry57C. Timmer58L. Tomlinson59A. Tooke60K. Vande Kerckhove61E. van Dam62T. van den Hurk63L. van der Ploeg64M. van Driessche65M. van Rijn66A. van Wegberg67C. Vasconcelos68H. Vestergaard69I. Vitoria70D. Webster71F.J. White72L. White73H. Zweers74A. MacDonald75Birmingham Women's and Children's Hospital, Birmingham, UKBirmingham Women's and Children's Hospital, Birmingham, UKBirmingham Women's and Children's Hospital, Birmingham, UKCentro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, PortugalCentre de référence des maladies héréditaires du métabolisme, Hôpital Necker Enfants Malades, Paris, FranceUnidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal Madrid, SpainChildren Hospital Bambino Gesù, Division of Artificial Nutrition, Rome, ItalyUniverisity Hospital Zurich, SwitzerlandMetabolic Center, University Hospitals Leuven and KU Leuven, BelgiumAddenbrooke's Hospital, Cambridge, UKEvelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UKUnit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, SpainUniversity of Groningen, University Medical Center Groningen, NetherlandsHôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, BelgiumCenter of Metabolic Diseases, University Hospital, Antwerp, BelgiumUniversity Hospital Ghent, BelgiumDepartment of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, University Hospital of Verona, ItalyGreat Ormond Street Hospital for Children NHS FoundationTrust, London, UKDr. von Hauner Children's Hospital, Munich, GermanyCentre de référence des maladies héréditaires du métabolisme, Hôpital Necker Enfants Malades, Paris, FranceCenter of Metabolic Diseases, University Hospital, Antwerp, BelgiumHospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, PortugalDivision of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padova, ItalyReference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, FranceReference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, FranceMetabolic Centre of Vienna, AustriaChildren Hospital Bambino Gesù, Division of Artificial Nutrition, Rome, ItalyNottingham University Hospitals, UKEvelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UKCharles Dent Metabolic Unit National Hospital for Neurology and Surgery, London, UKEmma Children's Hospital, AMC, Amsterdam, NetherlandsBristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UKRadboud University Medical Center Nijmegen, NetherlandsCenter of Metabolic Diseases, University Hospital, Antwerp, BelgiumCHU Angers, FranceHaukeland University Hospital, Bergen, NorwayWilhelmina Children's Hospital, University Medical Centre Utrecht, NetherlandsInstitute of Mother & Child, Warsaw, PolandCentre de Compétence de L'Hôpital des Enfants de Toulouse, FranceCentre de référence des maladies héréditaires du métabolisme, Hôpital Necker Enfants Malades, Paris, FranceOslo University Hospital, NorwayUniversity Children's Hospital Zurich, SwitzerlandErnährungsmedizinische Beratung, Universitätsklinik für Kinder- und Jugendheilkunde, Salzburg, AustriaClinic of Paediatric Kidney, Liver- and Metabolic Diseases, Medical School Hannover, GermanyEvelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UKUniversity Children's Hospital, Munster, GermanyHôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, BelgiumCentro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, PortugalBradford Teaching Hospital NHS Foundation Trust, UKHospital of Children's & Adolescents, University of Leipzig, GermanyRoyal Aberdeen Children's Hospital, ScotlandCentre de Reference des Maladies Héréditaires du Métabolisme du Pr. B. Chabrol CHU Timone Enfant, Marseille, FranceDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, GermanyUniversity Hospital of Wales, Cardiff, UKChildren's Hospital, University Hospital, Lund, SwedenGreat Ormond Street Hospital for Children NHS FoundationTrust, London, UKOslo University Hospital, NorwayAlder Hey Children's Hospital NHS Foundation Trust Liverpool, UKAcademisch Medisch Centrum, Amsterdam, NetherlandsUniversity Hospitals Birmingham NHS Foundation Trust, UKNottingham University Hospitals, UKMetabolic Center, University Hospitals Leuven and KU Leuven, BelgiumUniversity of Groningen, University Medical Center Groningen, NetherlandsWilhelmina Children's Hospital, University Medical Centre Utrecht, NetherlandsMaastricht University Medical Centre + (MUMC+), NetherlandsUniversity Hospital Ghent, BelgiumUniversity of Groningen, University Medical Center Groningen, NetherlandsRadboud University Medical Center Nijmegen, NetherlandsCentro Hospitalar São João - Unidade de Doenças Metabólicas, Porto, PortugalNational University Hospital, Copenhagen, DenmarkUnit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, SpainBristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UKCentral Manchester University Hospitals NHS Foundation Trust, Manchester, UKSheffield Children's Hospital, UKRadboud University Medical Center Nijmegen, NetherlandsBirmingham Women's and Children's Hospital, Birmingham, UKBackground: 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.http://www.sciencedirect.com/science/article/pii/S2214426917301350Propionic acidemiaProtein restricted dietPrecursor-free amino acidsNatural protein |
| spellingShingle | 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 Dietary practices in propionic acidemia: A European survey Molecular Genetics and Metabolism Reports Propionic acidemia Protein restricted diet Precursor-free amino acids Natural protein |
| title | Dietary practices in propionic acidemia: A European survey |
| title_full | Dietary practices in propionic acidemia: A European survey |
| title_fullStr | Dietary practices in propionic acidemia: A European survey |
| title_full_unstemmed | Dietary practices in propionic acidemia: A European survey |
| title_short | Dietary practices in propionic acidemia: A European survey |
| title_sort | dietary practices in propionic acidemia a european survey |
| topic | Propionic acidemia Protein restricted diet Precursor-free amino acids Natural protein |
| url | http://www.sciencedirect.com/science/article/pii/S2214426917301350 |
| work_keys_str_mv | AT adaly dietarypracticesinpropionicacidemiaaeuropeansurvey AT apinto dietarypracticesinpropionicacidemiaaeuropeansurvey AT sevans dietarypracticesinpropionicacidemiaaeuropeansurvey AT mfalmeida dietarypracticesinpropionicacidemiaaeuropeansurvey AT massoun dietarypracticesinpropionicacidemiaaeuropeansurvey AT abelangerquintana dietarypracticesinpropionicacidemiaaeuropeansurvey AT smbernabei dietarypracticesinpropionicacidemiaaeuropeansurvey AT sbollhalder dietarypracticesinpropionicacidemiaaeuropeansurvey AT dcassiman dietarypracticesinpropionicacidemiaaeuropeansurvey AT hchampion dietarypracticesinpropionicacidemiaaeuropeansurvey AT hchan dietarypracticesinpropionicacidemiaaeuropeansurvey AT jdalmau dietarypracticesinpropionicacidemiaaeuropeansurvey AT fdeboer dietarypracticesinpropionicacidemiaaeuropeansurvey AT cdelaet dietarypracticesinpropionicacidemiaaeuropeansurvey AT ademeyer dietarypracticesinpropionicacidemiaaeuropeansurvey AT adesloovere dietarypracticesinpropionicacidemiaaeuropeansurvey AT adianin dietarypracticesinpropionicacidemiaaeuropeansurvey AT mdixon dietarypracticesinpropionicacidemiaaeuropeansurvey AT kdokoupil dietarypracticesinpropionicacidemiaaeuropeansurvey AT sdubois dietarypracticesinpropionicacidemiaaeuropeansurvey AT feyskens dietarypracticesinpropionicacidemiaaeuropeansurvey AT afaria dietarypracticesinpropionicacidemiaaeuropeansurvey AT ifasan dietarypracticesinpropionicacidemiaaeuropeansurvey AT efavre dietarypracticesinpropionicacidemiaaeuropeansurvey AT ffeillet dietarypracticesinpropionicacidemiaaeuropeansurvey AT afekete dietarypracticesinpropionicacidemiaaeuropeansurvey AT ggallo dietarypracticesinpropionicacidemiaaeuropeansurvey AT cgingell dietarypracticesinpropionicacidemiaaeuropeansurvey AT jgribben dietarypracticesinpropionicacidemiaaeuropeansurvey AT kkaalundhansen dietarypracticesinpropionicacidemiaaeuropeansurvey AT nmterhorst dietarypracticesinpropionicacidemiaaeuropeansurvey AT cjankowski dietarypracticesinpropionicacidemiaaeuropeansurvey AT rjanssenregelink dietarypracticesinpropionicacidemiaaeuropeansurvey AT ijones dietarypracticesinpropionicacidemiaaeuropeansurvey AT cjouault dietarypracticesinpropionicacidemiaaeuropeansurvey AT gekahrs dietarypracticesinpropionicacidemiaaeuropeansurvey AT ilkok dietarypracticesinpropionicacidemiaaeuropeansurvey AT akowalik dietarypracticesinpropionicacidemiaaeuropeansurvey AT claguerre dietarypracticesinpropionicacidemiaaeuropeansurvey AT sleverge dietarypracticesinpropionicacidemiaaeuropeansurvey AT rlilje dietarypracticesinpropionicacidemiaaeuropeansurvey AT cmaddalon dietarypracticesinpropionicacidemiaaeuropeansurvey AT dmayr dietarypracticesinpropionicacidemiaaeuropeansurvey AT umeyer dietarypracticesinpropionicacidemiaaeuropeansurvey AT amicciche dietarypracticesinpropionicacidemiaaeuropeansurvey AT uoch dietarypracticesinpropionicacidemiaaeuropeansurvey AT mrobert dietarypracticesinpropionicacidemiaaeuropeansurvey AT jcrocha dietarypracticesinpropionicacidemiaaeuropeansurvey AT hrogozinski dietarypracticesinpropionicacidemiaaeuropeansurvey AT crohde dietarypracticesinpropionicacidemiaaeuropeansurvey AT kross dietarypracticesinpropionicacidemiaaeuropeansurvey AT isaruggia dietarypracticesinpropionicacidemiaaeuropeansurvey AT aschlune dietarypracticesinpropionicacidemiaaeuropeansurvey AT ksingleton dietarypracticesinpropionicacidemiaaeuropeansurvey AT esjoqvist dietarypracticesinpropionicacidemiaaeuropeansurvey AT rskeath dietarypracticesinpropionicacidemiaaeuropeansurvey AT lhstolen dietarypracticesinpropionicacidemiaaeuropeansurvey AT aterry dietarypracticesinpropionicacidemiaaeuropeansurvey AT ctimmer dietarypracticesinpropionicacidemiaaeuropeansurvey AT ltomlinson dietarypracticesinpropionicacidemiaaeuropeansurvey AT atooke dietarypracticesinpropionicacidemiaaeuropeansurvey AT kvandekerckhove dietarypracticesinpropionicacidemiaaeuropeansurvey AT evandam dietarypracticesinpropionicacidemiaaeuropeansurvey AT tvandenhurk dietarypracticesinpropionicacidemiaaeuropeansurvey AT lvanderploeg dietarypracticesinpropionicacidemiaaeuropeansurvey AT mvandriessche dietarypracticesinpropionicacidemiaaeuropeansurvey AT mvanrijn dietarypracticesinpropionicacidemiaaeuropeansurvey AT avanwegberg dietarypracticesinpropionicacidemiaaeuropeansurvey AT cvasconcelos dietarypracticesinpropionicacidemiaaeuropeansurvey AT hvestergaard dietarypracticesinpropionicacidemiaaeuropeansurvey AT ivitoria dietarypracticesinpropionicacidemiaaeuropeansurvey AT dwebster dietarypracticesinpropionicacidemiaaeuropeansurvey AT fjwhite dietarypracticesinpropionicacidemiaaeuropeansurvey AT lwhite dietarypracticesinpropionicacidemiaaeuropeansurvey AT hzweers dietarypracticesinpropionicacidemiaaeuropeansurvey AT amacdonald dietarypracticesinpropionicacidemiaaeuropeansurvey |