Dietary practices in isovaleric acidemia

A European survey

A. Pinto, A. Daly, S. Evans, M. F. Almeida, M. Assoun, A. Belanger-Quintana, S. 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 & 30 others F. Eyskens, A. Faria, I. Fasan, E. Favre, F. Feillet, A. Fekete, G. Gallo, C. Gingell, J. Gribben, K. Kaalund-Hansen, N. 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, M. Robert, J. C. Rocha, H. Rogozinski, C. Rohde, K. Ross

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)16-22
Number of pages7
JournalMolecular Genetics and Metabolism Reports
Volume12
DOIs
Publication statusPublished - Sep 1 2017

Fingerprint

Leucine
Proteins
Dietetics
Nutritionists
Age Groups
Enteral Nutrition
Amino Acids
Guidelines
Protein-Restricted Diet
Isovaleric acidemia
Surveys and Questionnaires
Practice Management

Keywords

  • Isovaleric acidemia
  • Leucine
  • Leucine free L-amino acids
  • Natural protein
  • Protein restricted diet

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Pinto, A., Daly, A., Evans, S., Almeida, M. F., Assoun, M., Belanger-Quintana, A., ... Ross, K. (2017). Dietary practices in isovaleric acidemia: A European survey. Molecular Genetics and Metabolism Reports, 12, 16-22. https://doi.org/10.1016/j.ymgmr.2017.02.001

Dietary practices in isovaleric acidemia : A European survey. / Pinto, A.; Daly, A.; Evans, S.; Almeida, M. F.; Assoun, M.; Belanger-Quintana, A.; Bernabei, S.; Bollhalder, S.; Cassiman, D.; Champion, H.; Chan, H.; Dalmau, J.; de Boer, F.; de Laet, C.; de Meyer, A.; Desloovere, A.; Dianin, A.; Dixon, M.; Dokoupil, K.; Dubois, S.; Eyskens, F.; Faria, A.; Fasan, I.; Favre, E.; Feillet, F.; Fekete, A.; Gallo, G.; Gingell, C.; Gribben, J.; Kaalund-Hansen, K.; Horst, N.; Jankowski, C.; Janssen-Regelink, R.; Jones, I.; Jouault, C.; Kahrs, G. E.; Kok, I. L.; Kowalik, A.; Laguerre, C.; Le Verge, S.; Lilje, R.; Maddalon, C.; Mayr, D.; Meyer, U.; Micciche, A.; Robert, M.; Rocha, J. C.; Rogozinski, H.; Rohde, C.; Ross, K.

In: Molecular Genetics and Metabolism Reports, Vol. 12, 01.09.2017, p. 16-22.

Research output: Contribution to journalArticle

Pinto, A, Daly, A, Evans, S, Almeida, MF, Assoun, M, Belanger-Quintana, A, Bernabei, S, Bollhalder, S, Cassiman, D, Champion, H, Chan, H, Dalmau, J, de Boer, F, de Laet, C, de Meyer, A, Desloovere, A, Dianin, A, Dixon, M, Dokoupil, K, Dubois, S, Eyskens, F, Faria, A, Fasan, I, Favre, E, Feillet, F, Fekete, A, Gallo, G, Gingell, C, Gribben, J, Kaalund-Hansen, K, Horst, N, Jankowski, C, Janssen-Regelink, R, Jones, I, Jouault, C, Kahrs, GE, Kok, IL, Kowalik, A, Laguerre, C, Le Verge, S, Lilje, R, Maddalon, C, Mayr, D, Meyer, U, Micciche, A, Robert, M, Rocha, JC, Rogozinski, H, Rohde, C & Ross, K 2017, 'Dietary practices in isovaleric acidemia: A European survey', Molecular Genetics and Metabolism Reports, vol. 12, pp. 16-22. https://doi.org/10.1016/j.ymgmr.2017.02.001
Pinto, A. ; Daly, A. ; Evans, S. ; Almeida, M. F. ; Assoun, M. ; Belanger-Quintana, A. ; Bernabei, S. ; Bollhalder, S. ; Cassiman, D. ; Champion, H. ; Chan, H. ; Dalmau, J. ; de Boer, F. ; de Laet, C. ; de Meyer, A. ; Desloovere, A. ; Dianin, A. ; Dixon, M. ; Dokoupil, K. ; Dubois, S. ; Eyskens, F. ; Faria, A. ; Fasan, I. ; Favre, E. ; Feillet, F. ; Fekete, A. ; Gallo, G. ; Gingell, C. ; Gribben, J. ; Kaalund-Hansen, K. ; Horst, N. ; Jankowski, C. ; Janssen-Regelink, R. ; Jones, I. ; Jouault, C. ; Kahrs, G. E. ; Kok, I. L. ; Kowalik, A. ; Laguerre, C. ; Le Verge, S. ; Lilje, R. ; Maddalon, C. ; Mayr, D. ; Meyer, U. ; Micciche, A. ; Robert, M. ; Rocha, J. C. ; Rogozinski, H. ; Rohde, C. ; Ross, K. / Dietary practices in isovaleric acidemia : A European survey. In: Molecular Genetics and Metabolism Reports. 2017 ; Vol. 12. pp. 16-22.
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title = "Dietary practices in isovaleric acidemia: A European survey",
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",
author = "A. Pinto and A. Daly and S. Evans and Almeida, {M. F.} and M. Assoun and A. Belanger-Quintana and S. Bernabei and S. Bollhalder and D. Cassiman and H. Champion and H. Chan and J. Dalmau and {de Boer}, F. and {de Laet}, C. and {de Meyer}, A. and A. Desloovere and A. Dianin and M. Dixon and K. Dokoupil and S. Dubois and F. Eyskens and A. Faria and I. Fasan and E. Favre and F. Feillet and A. Fekete and G. Gallo and C. Gingell and J. Gribben and K. Kaalund-Hansen and N. Horst and C. Jankowski and R. Janssen-Regelink and I. Jones and C. Jouault and Kahrs, {G. E.} and Kok, {I. L.} and A. Kowalik and C. Laguerre and {Le Verge}, S. and R. Lilje and C. Maddalon and D. Mayr and U. Meyer and A. Micciche and M. Robert and Rocha, {J. C.} and H. Rogozinski and C. Rohde and K. Ross",
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TY - JOUR

T1 - Dietary practices in isovaleric acidemia

T2 - A European survey

AU - Pinto, A.

AU - Daly, A.

AU - Evans, S.

AU - Almeida, M. F.

AU - Assoun, M.

AU - Belanger-Quintana, A.

AU - Bernabei, S.

AU - Bollhalder, S.

AU - Cassiman, D.

AU - Champion, H.

AU - Chan, H.

AU - Dalmau, J.

AU - de Boer, F.

AU - de Laet, C.

AU - de Meyer, A.

AU - Desloovere, A.

AU - Dianin, A.

AU - Dixon, M.

AU - Dokoupil, K.

AU - Dubois, S.

AU - Eyskens, F.

AU - Faria, A.

AU - Fasan, I.

AU - Favre, E.

AU - Feillet, F.

AU - Fekete, A.

AU - Gallo, G.

AU - Gingell, C.

AU - Gribben, J.

AU - Kaalund-Hansen, K.

AU - Horst, N.

AU - Jankowski, C.

AU - Janssen-Regelink, R.

AU - Jones, I.

AU - Jouault, C.

AU - Kahrs, G. E.

AU - Kok, I. L.

AU - Kowalik, A.

AU - Laguerre, C.

AU - Le Verge, S.

AU - Lilje, R.

AU - Maddalon, C.

AU - Mayr, D.

AU - Meyer, U.

AU - Micciche, A.

AU - Robert, M.

AU - Rocha, J. C.

AU - Rogozinski, H.

AU - Rohde, C.

AU - Ross, K.

PY - 2017/9/1

Y1 - 2017/9/1

N2 - 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.

AB - 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.

KW - Isovaleric acidemia

KW - Leucine

KW - Leucine free L-amino acids

KW - Natural protein

KW - Protein restricted diet

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