Dietary practices in methylmalonic acidaemia: a European survey-Reference-Cited by-同舟云学术

Dietary practices in methylmalonic acidaemia: a European survey

Published:2019-12-16 Issue:1 Volume:33 Page:147-155
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Pinto Alex¹,Evans Sharon²^ORCID,Daly Anne²,Almeida Manuela Ferreira³⁴⁵,Assoun Murielle⁶,Belanger-Quintana Amaya⁷,Bernabei Silvia Maria⁸,Bollhalder Sandra⁹,Cassiman David¹⁰,Champion Helena¹¹,Chan Heidi¹²,Corthouts Karen¹⁰,Dalmau Jaime¹³,Boer Foekje de¹⁴,Laet Corinne De¹⁵,Meyer An de¹⁶,Desloovere An¹⁷,Dianin Alice¹⁸,Dixon Marjorie¹⁹,Dokoupil Katharina²⁰,Dubois Sandrine⁶,Eyskens Francois¹⁶,Faria Ana²¹,Fasan Ilaria²²,Favre Elisabeth²³,Feillet François²³,Fekete Anna²⁴,Gallo Giorgia⁸,Gingell Cerys²⁵,Gribben Joanna¹²,Hansen Kit Kaalund²⁶,Horst Nienke Ter²⁷,Jankowski Camille²⁸,Janssen-Regelink Renske²⁹,Jones Ilana¹⁶,Jouault Catherine³⁰,Kahrs Gudrun Elise³¹,Kok Irene³²,Kowalik Agnieszka³³,Laguerre Catherine³⁴,Verge Sandrine Le⁶,Liguori Alessandra⁸,Lilje Rina³⁵,Maddalon Cornelia³⁶,Mayr Doris³⁷,Meyer Uta³⁸,Micciche Avril¹²,Och Ulrike³⁹,Robert Martine¹⁵,Rocha Júlio César³⁵⁴⁰^ORCID,Rogozinski Hazel⁴¹,Rohde Carmen⁴²,Ross Kathleen⁴³,Saruggia Isabelle⁴⁴,Schlune Andrea⁴⁵,Singleton Kath⁴⁶,Sjoqvist Elisabeth⁴⁷,Skeath Rachel¹⁹,Stolen Linn Helene³⁵,Terry Allyson⁴⁸,Timmer Corrie⁴⁹,Tomlinson Lyndsey⁵⁰,Tooke Alison²⁵,Kerckhove Kristel Vande¹⁰,van Dam Esther¹⁴,Hurk Dorine van den³²,Ploeg Liesbeth van der⁵¹,van Driessche Marleen¹⁷,van Rijn Margreet¹⁴,Wegberg Annemiek van²⁹,Vasconcelos Carla⁵²,Vestergaard Helle⁵³,Vitoria Isidro¹³,Webster Diana²⁸,White Fiona⁵⁴,White Lucy⁵⁵,Zweers Heidi²⁹,MacDonald Anita²

Affiliation:

1. Dietetic Department , Birmingham Women’s and Children’s Hospital, Steelhouse Lane , Birmingham B4 6NH , UK

2. Birmingham Women’s and Children’s Hospital , Birmingham , UK

3. Centro de Genética Médica , Centro Hospitalar Universitário do Porto – CHUP , Porto , Portugal

4. Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences , University of Porto – UMIB/ICBAS/UP , Porto , Portugal

5. Centro de Referência na área de Doenças Hereditárias do Metabolismo , Centro Hospitalar Universitário do Porto – CHUP , Porto , Portugal

6. Centre de référence des maladies héréditaires du métabolisme , Hôpital Necker Enfants Malades , Paris , France

7. Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal , Madrid , Spain

8. Children Hospital Bambino Gesù , Division of Artificial Nutrition , Rome , Italy

9. Univerisity Hospital Zurich , Zurich , Switzerland

10. Metabolic Center , University Hospitals Leuven and KU Leuven , Leuven , Belgium

11. Addenbrooke’s Hospital , Cambridge , UK

12. Evelina London Children’s Hospital , Guy’s and St. Thomas’ NHS Foundation Trust , London , UK

13. Unit of Nutrition and Metabolopathies , Hospital La Fe , Valencia , Spain

14. University of Groningen, University Medical Center Groningen , Groningen , The Netherlands

15. Hôpital Universitaire des Enfants, Reine Fabiola , Bruxelles , Belgium

16. Center of Metabolic Diseases , University Hospital , Antwerp , Belgium

17. University Hospital Ghent , Ghent , Belgium

18. Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases , University Hospital of Verona , Verona , Italy

19. Great Ormond Street Hospital for Children NHS Foundation Trust , London , UK

20. Dr. von Hauner Children’s Hospital , Munich , Germany

21. Hospital Pediátrico , Centro Hospitalar e Universitário de Coimbra, EPE , Coimbra , Portugal

22. Division of Inherited Metabolic Diseases, Department of Pediatrics , University Hospital of Padova , Padua , Italy

23. Reference Center for Inborn Errors of Metabolism, Department of Pediatrics , Children’s University Hospital , Nancy , France

24. Metabolic Centre of Vienna , Vienna , Austria

25. Nottingham University Hospitals , Nottingham , UK

26. Charles Dent Metabolic Unit National Hospital for Neurology and Surgery , London , UK

27. Emma Children’s Hospital, AMC Amsterdam , Amsterdam , The Netherlands

28. Bristol Royal Hospital for Children , University Hospitals Bristol NHS Foundation Trust , Bristol , UK

29. Radboud University Medical Center , Nijmegen , The Netherlands

30. CHU Angers , Angers , France

31. Haukeland University Hospital , Bergen , Norway

32. Wilhelmina Children’s Hospital , University Medical Centre Utrecht , Utrecht , The Netherlands

33. Institute of Mother and Child , Warsaw , Poland

34. Centre de Compétence de L’Hôpital des Enfants de Toulouse , Toulouse , France

35. Oslo University Hospital , Oslo , Norway

36. University Children’s Hospital Zurich , Zurich , Switzerland

37. Ernährungsmedizinische Beratung , Universitätsklinik für Kinder- und Jugendheilkunde , Salzburg , Austria

38. Clinic of Paediatric Kidney, Liver and Metabolic Diseases, Medical School Hannover , Hannover , Germany

39. University Children’s Hospital , Munster , Germany

40. Centre for Health Technology and Services Research (CINTESIS) , Porto , Portugal

41. Bradford Teaching Hospital NHS Foundation Trust , Bradford , UK

42. Department of Paediatrics of the University Clinics Leipzig , University of Leipzig , Leipzig , Germany

43. Royal Aberdeen Children’s Hospital , Aberdeen , 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 , 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. Amsterdam UMC , Amsterdam , The Netherlands

50. University Hospitals Birmingham NHS Foundation Trust , Birmingham , UK

51. Maastricht University Medical Centre+ (MUMC+) , Maastricht , The 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 , Sheffield , UK

Abstract

Abstract Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe. Methods A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0–6 months; 7–12 months; 1–10 years; 11–16 years; >16 years). Results Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to guide future practice.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2019-0277/pdf

Reference22 articles.

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