Dietary practices in isovaleric acidemia: A European survey

被引：15

作者：

Pinto, A. ^{[1
]}

Daly, A. ^{[1
]}

Evans, S. ^{[1
]}

Almeida, M. F. ^{[2
,3
]}

Assoun, M. ^{[4
]}

Belanger-Quintana, A. ^{[5
]}

Bernabei, S. ^{[6
]}

Bollhalder, S. ^{[7
]}

Cassiman, D. ^{[8
,9
]}

Champion, H. ^{[10
]}

Chan, H. ^{[11
]}

Dalmau, J.

de Boer, F. ^{[13
]}

de Laet, C. ^{[14
]}

de Meyer, A. ^{[15
]}

Desloovere, A. ^{[16
]}

Dianin, A. ^{[17
]}

Dixon, M. ^{[18
]}

Dokoupil, K. ^{[19
]}

Dubois, S. ^{[4
]}

Eyskens, F. ^{[15
]}

Faria, A. ^{[20
,21
]}

Fasan, I. ^{[22
]}

Favre, E. ^{[23
]}

Feillet, F. ^{[23
]}

Fekete, A. ^{[24
]}

Gallo, G. ^{[6
]}

Gingell, C. ^{[25
]}

Gribben, J. ^{[11
]}

Kaalund-Hansen, K. ^{[26
]}

Horst, N. ^{[27
]}

Jankowski, C. ^{[28
]}

Janssen-Regelink, R. ^{[29
]}

Jones, I. ^{[15
]}

Jouault, C. ^{[30
]}

Kahrs, G. E. ^{[31
]}

Kok, I. L. ^{[32
]}

Kowalik, A. ^{[33
]}

Laguerre, C. ^{[34
]}

Le Verge, S. ^{[4
]}

Lilje, R. ^{[35
]}

Maddalon, C. ^{[36
]}

Mayr, D. ^{[37
]}

Meyer, U. ^{[38
]}

Micciche, A. ^{[11
]}

Robert, M. ^{[14
]}

Rocha, J. C. ^{[2
,39
,40
]}

Rogozinski, H. ^{[41
]}

Rohde, C. ^{[42
]}

Ross, K. ^{[43
]}

机构：

[1] Birmingham Childrens Hosp, Birmingham, W Midlands, England

[2] Ctr Hosp Porto CHP, Ctr Genet Med, Oporto, Portugal

[3] Univ Porto UMIB ICBAS UP, Abel Salazar Inst Biomed Sci, Unit Multidisciplinary Res Biomed, Oporto, Portugal

[4] Hop Necker Enfants Malad, Ctr Reference Malad Hereditaires Metab, Paris, France

[5] Hosp Ramon & Cajal, Serv Pediat, Unidad Enfermedades Metab, Madrid, Spain

[6] Childrens Hosp Bambino Gesu, Div Metab, Rome, Italy

[7] Univ Hosp Zurich, Zurich, Switzerland

[8] Univ Hosp Leuven, Metab Ctr, Leuven, Belgium

[9] Katholieke Univ Leuven, Leuven, Belgium

[10] Addenbrookes Hosp, Cambridge, England

[11] Guys & St Thomas NHS Fdn Trust, Evelina London Childrens Hosp, London, England

[12] Hosp La Fe, Unit Nutr & Metabolopathies, Valencia, Spain

[13] Univ Groningen, Univ Med Ctr Groningen, Groningen, Netherlands

[14] Hop Univ Enfants, Brussels, Belgium

[15] Univ Hosp, Ctr Metab Dis, Antwerp, Belgium

[16] Univ Hosp Ghent, Ghent, Belgium

[17] Univ Hosp Borgo Roma, Dept Pediat, Verona, Italy

[18] Great Ormond St Hosp Children NHS Fdn Trust, London, England

[19] Dr von Hauner Childrens Hosp, Munich, Germany

[20] Ctr Hosp, Hosp Pediat, Coimbra, Portugal

[21] Univ Coimbra, EPE, Coimbra, Portugal

[22] Univ Hosp Padova, Dept Pediat, Div Inherited Metab Dis, Padua, Italy

[23] Childrens Univ Hosp, Dept Pediat, Reference Ctr Inborn Errors Metab, Nancy, France

[24] Metab Ctr Vienna, Vienna, Austria

[25] Nottingham Univ Hosp, Nottingham, England

[26] Natl Hosp Neurol & Surg, Charles Dent Metab Unit, London, England

[27] Emma Childrens Hosp, AMC, Amsterdam, Netherlands

[28] Univ Hosp Bristol NHS Fdn Trust, Bristol Royal Hosp Children, Bristol, Avon, England

[29] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands

[30] CHU Angers, Angers, France

[31] Haukeland Hosp, Bergen, Norway

[32] Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Utrecht, Netherlands

[33] Inst Mother & Child Hlth, Warsaw, Poland

[34] Ctr Competence Hop Enfants Toulouse, Toulouse, France

[35] Oslo Univ Hosp, Oslo, Norway

[36] Univ Childrens Hosp, Zurich, Switzerland

[37] Univ Klin Kinder & Jugendheilkunde, Ernahrungsmed Beratung, Salzburg, Austria

[38] Med Sch Hannover, Clin Paediat Kidney Liver & Metab Dis, Hannover, Germany

[39] Univ Fernando Pessoa, Fac Ciencias Saude, Oporto, Portugal

[40] Ctr Hlth Technol & Serv Res CINTESIS, Oporto, Portugal

[41] Bradford Teaching Hosp NHS Fdn Trust, Bradford, W Yorkshire, England

[42] Univ Leipzig, Hosp Childrens & Adolescents, Leipzig, Germany

[43] Royal Aberdeen Childrens Hosp, Aberdeen, Scotland

[44] Pr B Chabrol CHU Timone Enfant, Ctr Reference Malad Hereditaires Metab, Marseille, France

[45] Heinrich Heine Univ, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, Germany

[46] Univ Hosp Wales, Cardiff, S Glam, Wales

[47] Univ Hosp, Childrens Hosp, Lund, Sweden

[48] Alder Hey Childrens Hosp NHS Fdn Trust Liverpool, Liverpool, Merseyside, England

[49] Acad Med Ctr, Amsterdam, Netherlands

[50] Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, England

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2017年 / 12卷

关键词：

Isovaleric acidemia; Protein restricted diet; Leucine; Leucine free L-amino acids; Natural protein; L-CARNITINE; ORGANIC ACIDURIAS; GLYCINE THERAPY; METABOLIC DECOMPENSATION; PHENOTYPIC SPECTRUM; LEUCINE METABOLISM; PROTEIN-SYNTHESIS; GENETIC-DEFECT; MANAGEMENT; MASS;

D O I：

10.1016/j.ymgmr.2017.02.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2017 The Authors. Published by Elsevier Inc.

引用

页码：16 / 22

页数：7

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