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. 2017 Oct 3:13:83-89.
doi: 10.1016/j.ymgmr.2017.09.002. eCollection 2017 Dec.

Dietary practices in propionic acidemia: A European survey

A Daly  1 , A Pinto  1 , S Evans  1 , M F Almeida  2   3   4 , M Assoun  5 , A Belanger-Quintana  6 , S M Bernabei  7 , S Bollhalder  8 , D Cassiman  9 , H Champion  10 , H Chan  11 , J Dalmau  12 , F de Boer  13 , C de Laet  14 , A de Meyer  15 , A Desloovere  16 , A Dianin  17 , M Dixon  18 , K Dokoupil  19 , S Dubois  5 , F Eyskens  15 , A Faria  20 , I Fasan  21 , E Favre  22 , F Feillet  22 , A Fekete  23 , G Gallo  7 , C Gingell  24 , J Gribben  11 , K Kaalund Hansen  25 , N M Ter Horst  26 , C Jankowski  27 , R Janssen-Regelink  28 , I Jones  15 , C Jouault  29 , G E Kahrs  30 , I L Kok  31 , A Kowalik  32 , C Laguerre  33 , S Le Verge  5 , R Lilje  34 , C Maddalon  35 , D Mayr  36 , U Meyer  37 , A Micciche  11 , U Och  38 , M Robert  14 , J C Rocha  2   4   39   40 , H Rogozinski  41 , C Rohde  42 , K Ross  43 , I Saruggia  44 , A Schlune  45 , K Singleton  46 , E Sjoqvist  47 , R Skeath  18 , L H Stolen  34 , A Terry  48 , C Timmer  49 , L Tomlinson  50 , A Tooke  24 , K Vande Kerckhove  9 , E van Dam  13 , T van den Hurk  31 , L van der Ploeg  51 , M van Driessche  16 , M van Rijn  13 , A van Wegberg  28 , C Vasconcelos  52 , H Vestergaard  53 , I Vitoria  12 , D Webster  27 , F J White  54 , L White  55 , H Zweers  28 , A MacDonald  1
Affiliations

Dietary practices in propionic acidemia: A European survey

A Daly et al. Mol Genet Metab Rep. .

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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Figures

Fig. 1
Fig. 1
Mean total protein prescription in PA patients by centre in each age range (n = 47 centres).
Fig. 2
Fig. 2
Mean natural protein prescription in PA patients by centre in each age range. (n = 47 centres).
Fig. 3
Fig. 3
Mean PA precursor free amino acids prescription in PA patients by centre in each age range (n = 38 centres).
See this image and copyright information in PMC

References

    1. Nizon M., Ottolenghi C., Valayannopoulos V., Arnoux J.B., Barbier V., Habarou F., Desguerre I., Boddaert N., Bonnefont J.P., Acquaviva C., Benoist J.F., Rabier D., Touati G., de Lonlay P. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J. Rare Dis. 2013;8:148. - PMC - PubMed
    1. Kolker S., Garcia-Cazorla A., Valayannopoulos V., Lund A.M., Burlina A.B., Sykut-Cegielska J., Wijburg F.A., Teles E.L., Zeman J., Dionisi-Vici C., Baric I., Karall D., Augoustides-Savvopoulou P., Aksglaede L., Arnoux J.B., Avram P., Baumgartner M.R., Blasco-Alonso J., Chabrol B., Chakrapani A., Chapman K., EC I.S., Couce M.L., de Meirleir L., Dobbelaere D., Dvorakova V., Furlan F., Gleich F., Gradowska W., Grunewald S., Jalan A., Haberle J., Haege G., Lachmann R., Laemmle A., Langereis E., de Lonlay P., Martinelli D., Matsumoto S., Muhlhausen C., de Baulny H.O., Ortez C., Pena-Quintana L., Ramadza D.P., Rodrigues E., Scholl-Burgi S., Sokal E., Staufner C., Summar M.L., Thompson N., Vara R., Pinera I.V., Walter J.H., Williams M., Burgard P. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J. Inherit. Metab. Dis. 2015;38:1041–1057. - PubMed
    1. Childs B., Nyhan W.L., Borden M., Bard L., Cooke R.E. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics. 1961;27:522–538. - PubMed
    1. Leonard J.V. Stable isotope studies in propionic and methylmalonic acidaemia. Eur. J. Pediatr. 1997;156:S67–S69. - PubMed
    1. Baumgartner M.R., Horster F., Dionisi-Vici C., Haliloglu G., Karall D., Chapman K.A., Huemer M., Hochuli M., Assoun M., Ballhausen D., Burlina A., Fowler B., Grunert S.C., Grunewald S., Honzik T., Merinero B., Perez-Cerda C., Scholl-Burgi S., Skovby F., Wijburg F., MacDonald A., Martinelli D., Sass J.O., Valayannopoulos V., Chakrapani A. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J. Rare Dis. 2014;9:130. - PMC - PubMed

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