Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

Detalhes bibliográficos
Autor(a) principal: Navarro, David
Data de Publicação: 2018
Outros Autores: Azevedo, Ana, Sequeira, Sílvia, Ferreira, Ana Carina, Carvalho, Fernanda, Fidalgo, Teresa, Vilarinho, Laura, Santos, Maria Céu, Calado, Joaquim, Nolasco, Fernando
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/6264
Resumo: Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886929/
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spelling Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndromeMethylmalonic Aciduria and HomocystinuriaThrombotic MicroangiopathyVitamin B12 MetabolismDoenças GenéticasFree PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886929/Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.SpringerRepositório Científico do Instituto Nacional de SaúdeNavarro, DavidAzevedo, AnaSequeira, SílviaFerreira, Ana CarinaCarvalho, FernandaFidalgo, TeresaVilarinho, LauraSantos, Maria CéuCalado, JoaquimNolasco, Fernando2019-03-21T12:49:37Z2018-01-022018-01-02T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/6264engCEN Case Rep. 2018 May;7(1):73-76. doi: 10.1007/s13730-017-0298-6. Epub 2018 Jan 22192-444910.1007/s13730-017-0298-6info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:19Zoai:repositorio.insa.pt:10400.18/6264Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:55.763144Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
spellingShingle Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
Navarro, David
Methylmalonic Aciduria and Homocystinuria
Thrombotic Microangiopathy
Vitamin B12 Metabolism
Doenças Genéticas
title_short Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_full Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_fullStr Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_full_unstemmed Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
title_sort Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
author Navarro, David
author_facet Navarro, David
Azevedo, Ana
Sequeira, Sílvia
Ferreira, Ana Carina
Carvalho, Fernanda
Fidalgo, Teresa
Vilarinho, Laura
Santos, Maria Céu
Calado, Joaquim
Nolasco, Fernando
author_role author
author2 Azevedo, Ana
Sequeira, Sílvia
Ferreira, Ana Carina
Carvalho, Fernanda
Fidalgo, Teresa
Vilarinho, Laura
Santos, Maria Céu
Calado, Joaquim
Nolasco, Fernando
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Navarro, David
Azevedo, Ana
Sequeira, Sílvia
Ferreira, Ana Carina
Carvalho, Fernanda
Fidalgo, Teresa
Vilarinho, Laura
Santos, Maria Céu
Calado, Joaquim
Nolasco, Fernando
dc.subject.por.fl_str_mv Methylmalonic Aciduria and Homocystinuria
Thrombotic Microangiopathy
Vitamin B12 Metabolism
Doenças Genéticas
topic Methylmalonic Aciduria and Homocystinuria
Thrombotic Microangiopathy
Vitamin B12 Metabolism
Doenças Genéticas
description Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886929/
publishDate 2018
dc.date.none.fl_str_mv 2018-01-02
2018-01-02T00:00:00Z
2019-03-21T12:49:37Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/6264
url http://hdl.handle.net/10400.18/6264
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv CEN Case Rep. 2018 May;7(1):73-76. doi: 10.1007/s13730-017-0298-6. Epub 2018 Jan 2
2192-4449
10.1007/s13730-017-0298-6
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
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dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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