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Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry

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dc.contributor.authorHuemer, Martina
dc.contributor.authorDiodato, Daria
dc.contributor.authorMartinelli, Diego
dc.contributor.authorOlivieri, Giorgia
dc.contributor.authorBlom, Henk
dc.contributor.authorGleich, Florian
dc.contributor.authorKölker, Stefan
dc.contributor.authorKožich, Viktor
dc.contributor.authorMorris, Andrew A.
dc.contributor.authorSeifert, Burkhardt
dc.contributor.authorFroese, D. Sean
dc.contributor.authorBaumgartner, Matthias R.
dc.contributor.authorDionisi‐Vici, Carlo
dc.contributor.authorMartin, Carlos Alcalde
dc.contributor.authorBaethmann, Martina
dc.contributor.authorBallhausen, Diana
dc.contributor.authorBlasco‐Alonso, Javier
dc.contributor.authorBoy, Nikolas
dc.contributor.authorBueno, Maria
dc.contributor.authorBurgos Peláez, Rosa
dc.contributor.authorCerone, Roberto
dc.contributor.authorChabrol, Brigitte
dc.contributor.authorChapman, Kimberly A.
dc.contributor.authorCouce, Maria Luz
dc.contributor.authorCrushell, Ellen
dc.contributor.authorDalmau Serra, Jaime
dc.contributor.authorDiogo, Luisa
dc.contributor.authorFicicioglu, Can
dc.contributor.authorGarcía Jimenez, Maria Concepcion
dc.contributor.authorGarcía Silva, Maria Teresa
dc.contributor.authorGaspar, Ana
dc.contributor.authorGautschi, Matthias
dc.contributor.authorGonzález‐Lamuño, Domingo
dc.contributor.authorGouveia, Sofia
dc.contributor.authorGrünewald, Stephanie
dc.contributor.authorHendriksz, Chris
dc.contributor.authorJanssen, Mirian C. H.
dc.contributor.authorJesina, Pavel
dc.contributor.authorKoch, Johannes
dc.contributor.authorKonstantopoulou, Vassiliki
dc.contributor.authorLavigne, Christian
dc.contributor.authorLund, Allan M.
dc.contributor.authorMartins, Esmeralda G.
dc.contributor.authorMeavilla Olivas, Silvia
dc.contributor.authorMention, Karine
dc.contributor.authorMochel, Fanny
dc.contributor.authorMundy, Helen
dc.contributor.authorMurphy, Elaine
dc.contributor.authorPaquay, Stephanie
dc.contributor.authorPedrón‐Giner, Consuelo
dc.contributor.authorRuiz Gómez, Maria Angeles
dc.contributor.authorSantra, Saikat
dc.contributor.authorSchiff, Manuel
dc.contributor.authorSchwartz, Ida Vanessa
dc.contributor.authorScholl‐Bürgi, Sabine
dc.contributor.authorServais, Aude
dc.contributor.authorSkouma, Anastasia
dc.contributor.authorTran, Christel
dc.contributor.authorVives Piñera, Inmaculada
dc.contributor.authorWalter, John
dc.contributor.authorWeisfeld‐Adams, James
dc.date.accessioned2022-08-30T13:54:47Z
dc.date.available2022-08-30T13:54:47Z
dc.date.issued2019
dc.description© 2018 SSIEMpt_PT
dc.description.abstractAim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. Conclusion: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.pt_PT
dc.description.sponsorshipThis publication arises from the project E-HOD that has received funding from the European Union in the framework of the Health Programme. VK and PJ were supported by Institutional Research Programme RVO/VFN64165.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Inherit Metab Dis. 2019 Mar;42(2):333-352pt_PT
dc.identifier.doi10.1002/jimd.12041pt_PT
dc.identifier.eissn1573-2665
dc.identifier.issn0141-8955
dc.identifier.urihttp://hdl.handle.net/10451/54227
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relationRVO/VFN64165pt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/journal/15732665pt_PT
dc.titlePhenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registrypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage352pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage333pt_PT
oaire.citation.titleJournal of Inherited Metabolic Diseasept_PT
oaire.citation.volume42pt_PT
person.familyNameGaspar
person.givenNameAna
person.identifier.ciencia-id6D12-BB99-BD70
person.identifier.orcid0000-0003-3979-9924
person.identifier.scopus-author-id56214005900
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication356e1370-bb7e-491f-a30b-ec4fc0e66a42
relation.isAuthorOfPublication.latestForDiscovery356e1370-bb7e-491f-a30b-ec4fc0e66a42

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