Dietary practices in propionic acidemia: A European survey

• Main Authors: 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
• Format: Article
• Language: English
• Published: Elsevier 2017-12-01
• Series: Molecular Genetics and Metabolism Reports
• Subjects: Propionic acidemia; Protein restricted diet; Precursor-free amino acids; Natural protein
• Online Access: http://www.sciencedirect.com/science/article/pii/S2214426917301350
• ISSN: 2214-4269

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.