Repository logo
 
Publication

Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene

2020-10-16Journal article Restricted access
Simple item page
dc.contributor.authorSitta, Angela
dc.contributor.authorGuerreiro, Gilian
dc.contributor.authorde Moura Coelho, Daniella
dc.contributor.authorda Rocha, Vitoria Volfart
dc.contributor.authordos Reis, Bianca Gomes
dc.contributor.authorSousa, Carmen
dc.contributor.authorVilarinho, Laura
dc.contributor.authorWajner, Moacir
dc.contributor.authorVargas, Carmen Regla
dc.date.accessioned2021-04-07T16:13:53Z
dc.date.available2021-04-07T16:13:53Z
dc.date.issued2020-10-16
dc.description.abstractGlutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and present their clinical, biochemical, and molecular findings. Patients were diagnosed by high levels of glutaric and/or 3-hydroxyglutaric and glutarylcarnitine. Diagnosis was confirmed by genetic analysis. Most patients had the early-onset severe form of the disease and the main features were neurological deterioration, seizures and dystonia, usually following an episode of metabolic decompensation. Despite the early symptomatology, diagnosis took a long time for most patients. We identified 13 variants in the GCDH gene, four of them were novel: c.91 + 5G > A, c.167T > G, c.257C > T, and c.10A > T. The most common mutation was c.1204C > T (p.R402W). Surprisingly, the second most frequent mutation was the new mutation c.91 + 5G > A (IVS1 ds G-A + 5). Our results allowed a complete characterization of the GA-1 Brazilian patients. Besides, they expand the mutational spectrum of GA-1, with the description of four new mutations. This work reinforces the importance of awareness of GA-1 among doctors in order to allow early diagnosis and treatment in countries like Brazil where the disease has not been included in newborn screening programs.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMetab Brain Dis. 2021 Feb;36(2):205-212. doi: 10.1007/s11011-020-00632-0. Epub 2020 Oct 16.pt_PT
dc.identifier.doi10.1007/s11011-020-00632-0pt_PT
dc.identifier.issn0885-7490
dc.identifier.urihttp://hdl.handle.net/10400.18/7659
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007/s11011-020-00632-0pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectBrazilpt_PT
dc.subjectGCDH genept_PT
dc.subjectGlutaric aciduria type 1pt_PT
dc.subjectLate Diagnosispt_PT
dc.subjectMutationspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleClinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH genept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage212pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage205pt_PT
oaire.citation.titleMetabolic Brain Diseasept_PT
oaire.citation.volume36pt_PT
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
57_Clinical.pdf
Size:
273.21 KB
Format:
Adobe Portable Document Format
Download

Collections

DGH - Artigos em revistas internacionais