Dietary practices in isovaleric acidemia: A European survey.

Autor:	Pinto A; Birmingham Children's Hospital, Birmingham, UK., Daly A; Birmingham Children's Hospital, Birmingham, UK., Evans S; Birmingham Children's Hospital, Birmingham, UK., Almeida MF; Centro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, Porto, Portugal., Assoun M; Centre de référence des maladies héréditaires du métabolisme, hôpital Necker enfants Malades, Paris., Belanger-Quintana A; Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal Madrid, Spain., Bernabei S; Children's Hospital Bambino Gesù, Division of Metabolism, Rome, Italy., Bollhalder S; University Hospital Zurich, Switzerland., Cassiman D; Metabolic Center, University Hospitals Leuven and KU Leuven, Belgium., Champion H; Addenbrooke's Hospital, Cambridge, UK., Chan H; Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK., Dalmau J; Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain., de Boer F; University of Groningen, University Medical Center Groningen, Netherlands., de Laet C; Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium., de Meyer A; Center of Metabolic Diseases, University Hospital, Antwerp, Belgium., Desloovere A; University Hospital Ghent, Belgium., Dianin A; Pediatric Department, University Hospital of Borgo Roma Verona, Italy., Dixon M; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Dokoupil K; Dr. von Hauner Children's Hospital, Munich, Germany., Dubois S; Centre de référence des maladies héréditaires du métabolisme, hôpital Necker enfants Malades, Paris., Eyskens F; Center of Metabolic Diseases, University Hospital, Antwerp, Belgium., Faria A; Hospital Pediatrico, Centro Hospitalar e Universitário de Coimbra, EPE, Portugal., Fasan I; Division of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital of Padova, Italy., Favre E; Reference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, France., Feillet F; Reference center for Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Nancy, France., Fekete A; Metabolic Centre of Vienna, Austria., Gallo G; Children's Hospital Bambino Gesù, Division of Metabolism, Rome, Italy., Gingell C; Nottingham University Hospitals, UK., Gribben J; Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK., Kaalund-Hansen K; Charles Dent Metabolic Unit National Hospital for Neurology and Surgery, London, UK., Horst N; Emma Children's Hospital, AMC Amsterdam, Netherlands., Jankowski C; Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK., Janssen-Regelink R; Radboud University Medical Center Nijmegen, The Netherlands., Jones I; Center of Metabolic Diseases, University Hospital, Antwerp, Belgium., Jouault C; CHU Angers, France., Kahrs GE; Haukeland University Hospital, Bergen, Norway., Kok IL; Wilhelmina Children's Hospital, University Medical Centre Utrecht, Netherlands., Kowalik A; Institute of Mother & Child, Warsaw, Poland., Laguerre C; Centre de Compétence de L'Hôpital des Enfants de Toulouse, France., Le Verge S; Centre de référence des maladies héréditaires du métabolisme, hôpital Necker enfants Malades, Paris., Lilje R; Oslo University Hospital, Norway., Maddalon C; University Children's Hospital Zurich, Switzerland., Mayr D; Ernährungsmedizinische Beratung, Universitätsklinik für Kinder- und Jugendheilkunde, Salzburg, Austria., Meyer U; Clinic of Paediatric Kidney, Liver and Metabolic Diseases, Medical School Hannover, Germany., Micciche A; Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK., Robert M; Hôpital Universitaire des Enfants, Reine Fabiola, Bruxelles, Belgium., Rocha JC; Centro de Genética Médica, Centro Hospitalar do Porto - CHP, Porto, Portugal; Faculdade de Ciências da Saúde, Universidade Fernando Pessoa, Portugal; Centre for Health Technology and Services Research (CINTESIS), Portugal., Rogozinski H; Bradford Teaching Hospital NHS Foundation Trust, UK., Rohde C; Hospital of Children's & Adolescents, University of Leipzig, Germany., Ross K; Royal Aberdeen Children's Hospital, Scotland., Saruggia I; Centre de Reference des Maladies Héréditaires du Métabolisme du Pr. B. Chabrol CHU Timone Enfant, Marseille, France., Schlune A; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Düsseldorf, Germany., Singleton K; University Hospital of Wales, Cardiff, UK., Sjoqvist E; Children's Hospital, University Hospital, Lund, Sweden., Stolen LH; Oslo University Hospital, Norway., Terry A; Alder Hey Children's Hospital NHS Foundation Trust Liverpool, UK., Timmer C; Academisch Medisch Centrum, Amsterdam, Netherlands., Tomlinson L; University Hospitals Birmingham NHS Foundation Trust, UK., Tooke A; Nottingham University Hospitals, UK., Vande Kerckhove K; Metabolic Center, University Hospitals Leuven and KU Leuven, Belgium., van Dam E; University of Groningen, University Medical Center Groningen, Netherlands., van den Hurk T; Wilhelmina Children's Hospital, University Medical Centre Utrecht, Netherlands., van der Ploeg L; Maastricht University Medical Centre + (MUMC +), Netherlands., van Driessche M; University Hospital Ghent, Belgium., van Rijn M; University of Groningen, University Medical Center Groningen, Netherlands., van Teeffelen-Heithoff A; University Children's Hospital, Munster, Germany., van Wegberg A; Radboud University Medical Center Nijmegen, The Netherlands., Vasconcelos C; Centro Hospitalar São João - Unidade de Doenças Metabólicas, Porto, Portugal., Vestergaard H; National University Hospital, Copenhagen, Denmark., Vitoria I; Unit of Nutrition and Metabolopathies, Hospital La Fe, Valencia, Spain., Webster D; Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK., White FJ; Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., White L; Sheffield Children's Hospital, UK., Zweers H; Radboud University Medical Center Nijmegen, The Netherlands., MacDonald A; Birmingham Children's Hospital, Birmingham, UK.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2017 Feb 27; Vol. 12, pp. 16-22. Date of Electronic Publication: 2017 Feb 27 (Print Publication: 2017).
DOI:	10.1016/j.ymgmr.2017.02.001
Abstrakt:	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.
Databáze:	MEDLINE
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