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. 2017 Feb 27:12:16-22.
doi: 10.1016/j.ymgmr.2017.02.001. eCollection 2017 Sep.

Dietary practices in isovaleric acidemia: A European survey

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

Dietary practices in isovaleric acidemia: A European survey

A Pinto et al. Mol Genet Metab Rep. .

Abstract

Background: In Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management.

Aim: To describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014).

Methods: A cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA.

Results: Information on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed.

Conclusions: This survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.

Keywords: Isovaleric acidemia; Leucine; Leucine free l-amino acids; Natural protein; Protein restricted diet.

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Figures

Fig. 1
Fig. 1
Mean total protein prescription to IVA patients by centre in each age range (n = 38 centres).
Fig. 2
Fig. 2
Mean natural protein prescription to IVA patients by centre in each age range (n = 38 centres).
Fig. 3
Fig. 3
Mean leucine free l-amino acid prescription to IVA patients by centre in each age range (n = 23 centres).
See this image and copyright information in PMC

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