Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/69826
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dc.contributor.authorMolema, Femkeen_US
dc.contributor.authorGleich, Florianen_US
dc.contributor.authorBurgard, Peteren_US
dc.contributor.authorvan der Ploeg, Ans T.en_US
dc.contributor.authorSummar, Marshall L.en_US
dc.contributor.authorChapman, Kimberly A.en_US
dc.contributor.authorBarić, Ivoen_US
dc.contributor.authorLund, Allan M.en_US
dc.contributor.authorKölker, Stefanen_US
dc.contributor.authorWilliams, Moniqueen_US
dc.contributor.authorHörster, F.en_US
dc.contributor.authorJelsig, A. M.en_US
dc.contributor.authorde Lonlay, P.en_US
dc.contributor.authorWijburg, F. A.en_US
dc.contributor.authorBosch, A.en_US
dc.contributor.authorFreisinger, P.en_US
dc.contributor.authorPosset, R.en_US
dc.contributor.authorAugoustides-Savvopoulou, P.en_US
dc.contributor.authorAvram, P.en_US
dc.contributor.authorDeleanu, C.en_US
dc.contributor.authorBaumgartner, M. R.en_US
dc.contributor.authorHäberle, J.en_US
dc.contributor.authorBlasco-Alonso, J.en_US
dc.contributor.authorBurlina, A. B.en_US
dc.contributor.authorRubert, L.en_US
dc.contributor.authorCazorla, A. Garciaen_US
dc.contributor.authorSaladelafont, E. Cortes i.en_US
dc.contributor.authorDionisi-Vici, C.en_US
dc.contributor.authorMartinelli, D.en_US
dc.contributor.authorDobbelaere, D.en_US
dc.contributor.authorMention, K.en_US
dc.contributor.authorGrünewald, S.en_US
dc.contributor.authorChakrapani, A.en_US
dc.contributor.authorHwu, Wuh Liangen_US
dc.contributor.authorChien, Yin Hsiuen_US
dc.contributor.authorLee, Ni Chungen_US
dc.contributor.authorKarall, D.en_US
dc.contributor.authorScholl-Bürgi, S.en_US
dc.contributor.authorLachmann, R.en_US
dc.contributor.authorDe Laet, C.en_US
dc.contributor.authorMatsumoto, S.en_US
dc.contributor.authorde Meirleir, L.en_US
dc.contributor.authorMühlhausen, C.en_US
dc.contributor.authorSchiff, M.en_US
dc.contributor.authorPeña Quintana, Luisen_US
dc.contributor.authorDjordjevic, M.en_US
dc.contributor.authorSarajlija, A.en_US
dc.contributor.authorSykut-Cegielska, J.en_US
dc.contributor.authorWisniewska, A.en_US
dc.contributor.authorLeao-Teles, E.en_US
dc.contributor.authorAlves, S.en_US
dc.contributor.authorVara, R.en_US
dc.contributor.authorVives-Pinera, I.en_US
dc.contributor.authorOrtega, D. G.en_US
dc.contributor.authorMorris, A.en_US
dc.contributor.authorZeman, J.en_US
dc.contributor.authorHonzik, T.en_US
dc.contributor.authorChabrol, B.en_US
dc.contributor.authorArnaudo, F.en_US
dc.contributor.authorCano, A.en_US
dc.contributor.authorThompson, N.en_US
dc.contributor.authorEyskens, F.en_US
dc.contributor.authorLindner, M.en_US
dc.contributor.authorLüsebrink, N.en_US
dc.contributor.authorJalan, A.en_US
dc.contributor.authorSokal, E.en_US
dc.contributor.authorLegros, V.en_US
dc.contributor.authorNassogne, M. C.en_US
dc.date.accessioned2020-02-05T12:50:27Z-
dc.date.available2020-02-05T12:50:27Z-
dc.date.issued2019en_US
dc.identifier.issn0141-8955en_US
dc.identifier.otherScopus-
dc.identifier.urihttp://hdl.handle.net/10553/69826-
dc.description.abstractOrganic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline and studied plasma amino acids levels. We analyzed data from the first visit recorded in the European registry and network for intoxication type metabolic diseases (E-IMD, Chafea no. 2010 12 01). In total, 271 methylmalonic aciduria (MMA) and propionic aciduria (PA) and 361 UCD patients were included. Median natural protein prescription was consistent with the recommended daily allowance (RDA), plasma L-valine (57%), and L-isoleucine (55%) levels in MMA and PA lay below reference ranges. Plasma levels were particularly low in patients who received amino acid mixtures (AAMs-OAD) and L-isoleucine:L-leucine:L-valine (BCAA) ratio was 1.0:3.0:3.2. In UCD patients, plasma L-valine, L-isoleucine, and L-leucine levels lay below reference ranges in 18%, 30%, and 31%, respectively. In symptomatic UCD patients who received AAM-UCD, the median natural protein prescription lay below RDA, while their L-valine and L-isoleucine levels and plasma BCAA ratios were comparable to those in patients who did not receive AAM-UCD. Notably, in patients with ornithine transcarbamylase syndrome (OTC-D), carbamylphosphate synthetase 1 syndrome (CPS1-D) and hyperammonemia-hyperornithinemia-homocitrullinemia (HHH) syndrome selective L-citrulline supplementation resulted in higher plasma L-arginine levels than selective L-arginine supplementation. In conclusion, while MMA and PA patients who received AAMs-OAD had very low BCAA levels and disturbed plasma BCAA ratios, AAMs-UCD seemed to help UCD patients obtain normal BCAA levels. In patients with OTC-D, CPS1-D, and HHH syndrome, selective L-citrulline seemed preferable to selective L-arginine supplementation.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Inherited Metabolic Diseaseen_US
dc.sourceJournal of Inherited Metabolic Disease [ISSN 0141-8955], v. 42 (6), p. 1162-1175en_US
dc.subject32 Ciencias médicasen_US
dc.subject.otherAmino Acid Mixturesen_US
dc.subject.otherBranched-Chain Amino Acidsen_US
dc.subject.otherDietary And Supplemental Treatmenten_US
dc.subject.otherL-Citrulline And L-Arginineen_US
dc.subject.otherOrganic Aciduriasen_US
dc.subject.otherUrea-Cycle Disordersen_US
dc.titleEvaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeArticleen_US
dc.relation.conferenceInternational Conference on Ureagenesis Defects - Novel Models and Treatment Options
dc.identifier.doi10.1002/jimd.12066
dc.identifier.scopus85062221655-
dc.identifier.isi000501809000013
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dc.description.lastpage1175-
dc.identifier.issue6-
dc.description.firstpage1162-
dc.relation.volume42-
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
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dc.utils.revisionen_US
dc.contributor.wosstandardWOS:Molema, F
dc.contributor.wosstandardWOS:Gleich, F
dc.contributor.wosstandardWOS:Burgard, P
dc.contributor.wosstandardWOS:van der Ploeg, AT
dc.contributor.wosstandardWOS:Summar, ML
dc.contributor.wosstandardWOS:Chapman, KA
dc.contributor.wosstandardWOS:Baric, I
dc.contributor.wosstandardWOS:Lund, AM
dc.contributor.wosstandardWOS:Kolker, S
dc.contributor.wosstandardWOS:Williams, M
dc.contributor.wosstandardWOS:Horster, F
dc.contributor.wosstandardWOS:Jelsig, AM
dc.contributor.wosstandardWOS:de Lonlay, P
dc.contributor.wosstandardWOS:Wijburg, FA
dc.contributor.wosstandardWOS:Bosch, A
dc.contributor.wosstandardWOS:Freisinger, P
dc.contributor.wosstandardWOS:Posset, R
dc.contributor.wosstandardWOS:Augoustides-Savvopoulou, P
dc.contributor.wosstandardWOS:Avram, P
dc.contributor.wosstandardWOS:Deleanu, C
dc.contributor.wosstandardWOS:Baumgartner, MR
dc.contributor.wosstandardWOS:Haberle, J
dc.contributor.wosstandardWOS:Blasco-Alonso, J
dc.contributor.wosstandardWOS:Burlina, AB
dc.contributor.wosstandardWOS:Rubert, L
dc.contributor.wosstandardWOS:Cazorla, AG
dc.contributor.wosstandardWOS:Saladelafont, ECI
dc.contributor.wosstandardWOS:Dionisi-Vici, C
dc.contributor.wosstandardWOS:Martinelli, D
dc.contributor.wosstandardWOS:Dobbelaere, D
dc.contributor.wosstandardWOS:Mention, K
dc.contributor.wosstandardWOS:Grunewald, S
dc.contributor.wosstandardWOS:Chakrapani, A
dc.contributor.wosstandardWOS:Hwu, WL
dc.contributor.wosstandardWOS:Chien, YH
dc.contributor.wosstandardWOS:Lee, NC
dc.contributor.wosstandardWOS:Karall, D
dc.contributor.wosstandardWOS:Scholl-Burgi, S
dc.contributor.wosstandardWOS:Lachmann, R
dc.contributor.wosstandardWOS:De Laet, C
dc.contributor.wosstandardWOS:Matsumoto, S
dc.contributor.wosstandardWOS:de Meirleir, L
dc.contributor.wosstandardWOS:Muhlhausen, C
dc.contributor.wosstandardWOS:Schiff, M
dc.contributor.wosstandardWOS:Pena-Quintana, L
dc.contributor.wosstandardWOS:Djordjevic, M
dc.contributor.wosstandardWOS:Sarajlija, A
dc.contributor.wosstandardWOS:Sykut-Cegielska, J
dc.contributor.wosstandardWOS:Wisniewska, A
dc.contributor.wosstandardWOS:Leao-Teles, E
dc.contributor.wosstandardWOS:Alves, S
dc.contributor.wosstandardWOS:Vara, R
dc.contributor.wosstandardWOS:Vives-Pinera, I
dc.contributor.wosstandardWOS:Ortega, DG
dc.contributor.wosstandardWOS:Morris, A
dc.contributor.wosstandardWOS:Zeman, J
dc.contributor.wosstandardWOS:Honzik, T
dc.contributor.wosstandardWOS:Chabrol, B
dc.contributor.wosstandardWOS:Arnaudo, F
dc.contributor.wosstandardWOS:Cano, A
dc.contributor.wosstandardWOS:Thompson, N
dc.contributor.wosstandardWOS:Eyskens, F
dc.contributor.wosstandardWOS:Lindner, M
dc.contributor.wosstandardWOS:Lusebrink, N
dc.contributor.wosstandardWOS:Jalan, A
dc.contributor.wosstandardWOS:Sokal, E
dc.contributor.wosstandardWOS:Legros, V
dc.contributor.wosstandardWOS:Nassogne, MC
dc.date.coverdateNoviembre 2019
dc.identifier.conferenceidevents121180
dc.identifier.ulpgces
dc.description.sjr1,328
dc.description.jcr4,036
dc.description.sjrqQ2
dc.description.jcrqQ2
dc.description.scieSCIE
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Nutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Clínicas-
crisitem.author.orcid0000-0001-6052-5894-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNamePeña Quintana, Luis-
crisitem.event.eventsstartdate19-03-2018-
crisitem.event.eventsenddate21-03-2018-
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