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Dietary practices in methylmalonic acidaemia: a European survey

2019Journal article Open access
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dc.contributor.authorPinto, Alex
dc.contributor.authorEvans, Sharon
dc.contributor.authorDaly, Anne
dc.contributor.authorAlmeida, Manuela Ferreira
dc.contributor.authorAssoun, Murielle
dc.contributor.authorBélanger-Quintana, Amaya
dc.contributor.authorBernabei, Silvia Maria
dc.contributor.authorBollhalder, Sandra
dc.contributor.authorCassiman, David
dc.contributor.authorChampion, Helena
dc.contributor.authorChan, Heidi
dc.contributor.authorCorthouts, Karen
dc.contributor.authorDalmau, Jaime
dc.contributor.authorBoer, Foekje de
dc.contributor.authorLaet, Corinne De
dc.contributor.authorMeyer, An de
dc.contributor.authorDesloovere, An
dc.contributor.authorDianin, Alice
dc.contributor.authorDixon, Marjorie
dc.contributor.authorDokoupil, Katharina
dc.contributor.authorDubois, Sandrine
dc.contributor.authorEyskens, Francois
dc.contributor.authorFaria, Ana
dc.contributor.authorFasan, Ilaria
dc.contributor.authorFavre, Elisabeth
dc.contributor.authorFeillet, François
dc.contributor.authorFekete, Anna
dc.contributor.authorGallo, Giorgia
dc.contributor.authorGingell, Cerys
dc.contributor.authorGribben, Joanna
dc.contributor.authorHansen, Kit Kaalund
dc.contributor.authorHorst, Nienke Ter
dc.contributor.authorJankowski, Camille
dc.contributor.authorJanssen-Regelink, Renske
dc.contributor.authorJones, Ilana
dc.contributor.authorJouault, Catherine
dc.contributor.authorKahrs, Gudrun Elise
dc.contributor.authorKok, Irene
dc.contributor.authorKowalik, Agnieszka
dc.contributor.authorLaguerre, Catherine
dc.contributor.authorVerge, Sandrine Le
dc.contributor.authorLiguori, Alessandra
dc.contributor.authorLilje, Rina
dc.contributor.authorMaddalon, Cornelia
dc.contributor.authorMayr, Doris
dc.contributor.authorMeyer, Uta
dc.contributor.authorMicciche, Avril
dc.contributor.authorOch, Ulrike
dc.contributor.authorRobert, Martine
dc.contributor.authorRocha, Júlio César
dc.contributor.authorRogozinski, Hazel
dc.contributor.authorRohde, Carmen
dc.contributor.authorRoss, Kathleen
dc.contributor.authorSaruggia, Isabelle
dc.contributor.authorSchlune, Andrea
dc.contributor.authorSingleton, Kath
dc.contributor.authorSjoqvist, Elisabeth
dc.contributor.authorSkeath, Rachel
dc.contributor.authorStolen, Linn Helene
dc.contributor.authorTerry, Allyson
dc.contributor.authorTimmer, Corrie
dc.contributor.authorTomlinson, Lyndsey
dc.contributor.authorTooke, Alison
dc.contributor.authorKerckhove, Kristel Vande
dc.contributor.authorvan Dam, Esther
dc.contributor.authorHurk, Dorine van den
dc.contributor.authorPloeg, Liesbeth van der
dc.contributor.authorVan Driessche, Marleen
dc.contributor.authorvan Rijn, Margreet
dc.contributor.authorWegberg, Annemiek van
dc.contributor.authorVasconcelos, Carla
dc.contributor.authorVestergaard, Helle
dc.contributor.authorVitoria, Isidro
dc.contributor.authorWebster, Diana
dc.contributor.authorWhite, Fiona
dc.contributor.authorWhite, Lucy
dc.contributor.authorZweers, Heidi
dc.contributor.authorMacDonald, Anita
dc.date.accessioned2020-05-02T19:45:38Z
dc.date.available2020-12-17T01:30:17Z
dc.date.issued2019
dc.description.abstractBackground -The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim -To describe the dietary management of patients with MMA across Europe. Methods - A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results - Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11/25) prescribed natural protein below the World Health Organization/Food and Agriculture Organization/United Nations University (WHO/FAO/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10/25) caring for 36% (29/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31/43) prescribed natural protein below the safe levels of protein intake (WHO/FAO/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33/43) managing 81% (n=174/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy. Conclusions - A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to guide future practice.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1515/jpem-2019-0277pt_PT
dc.identifier.issn2191-0251
dc.identifier.urihttp://hdl.handle.net/10400.26/32101
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttps://www.degruyter.com/view/j/jpem.2020.33.issue-1/jpem-2019-0277/jpem-2019-0277.xmlpt_PT
dc.subjectMethylmalonic acidaemiapt_PT
dc.subjectNatural proteinpt_PT
dc.subjectPrecursor-free amino acidspt_PT
dc.subjectProtein-restricted dietpt_PT
dc.titleDietary practices in methylmalonic acidaemia: a European surveypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage155pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage147pt_PT
oaire.citation.titleJournal of Pediatric Endocrinology and Metabolismpt_PT
oaire.citation.volume33pt_PT
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