Investigation of inborn errors of metabolism

Detalhes bibliográficos
Autor(a) principal: Wajner, Moacir
Data de Publicação: 2022
Outros Autores: R. Vargas, Carmen, Burin, Maira, Giugliani, Roberto, C. Coelho, Janice
Tipo de documento: Artigo
Idioma: por
Título da fonte: Clinical and Biomedical Research
Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/126038
Resumo: Inborn errors of metabolism are inherited metabolic disorders individually rare, but, taken together, their overall frequence is about 1 case out of 1000 newborns. The present study aimed to describe the main clinical features, as well as the general principles of investigation for these diseases. They were divided into two categories, one of the small molecules (aminoacidopathies, organic acidemias, etc) and the other of the complex molecules (lisossomal storage disorders, peroxisomal disorders, etc). Some of the most frequent groups of inborn errors of metabolism such as the aminoacidopathies, the organic acidemias and the mucopolissacharidosis, were discussed in detail.
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spelling Investigation of inborn errors of metabolismInvestigação de erros inatos do metabolismo: Erros inatos do metabolismoinvestigação diagnósticadoenças metabólicas: Inborn errors of metabolismdiagnostic investigationmetabolic diseasesInborn errors of metabolism are inherited metabolic disorders individually rare, but, taken together, their overall frequence is about 1 case out of 1000 newborns. The present study aimed to describe the main clinical features, as well as the general principles of investigation for these diseases. They were divided into two categories, one of the small molecules (aminoacidopathies, organic acidemias, etc) and the other of the complex molecules (lisossomal storage disorders, peroxisomal disorders, etc). Some of the most frequent groups of inborn errors of metabolism such as the aminoacidopathies, the organic acidemias and the mucopolissacharidosis, were discussed in detail.Os erros inatos do metabolismo são doenças metabólicas hereditárias individualmente raras, mas que em seu conjunto apresentam uma incidência aproximada de pelo menos 1 caso para cada mil nascimentos. O presente trabalho teve por objetivos descrever as principais manifestações clínicas, bem como os protocolos gerais de investigação diagnóstica para a maioria destes distúrbios. Para fins práticos, estas doenças foram divididas em duas categorias: das moléculas pequenas (aminoacidopatias, acideias orgânicas, etc) e das moléculas complexas (doenças lisossômicas de depósito, doenças peroxissomais, etc). Alguns grupos mais prevalentes de erros inatos do metabolismo, tais como as aminoacidopatias, as acidemias orgânicas e as mucopolissacaridoses, foram discutidos com maior ênfase.HCPA/FAMED/UFRGS2022-07-22info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed Article"A Convite dos Editoresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/126038Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPAClinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSporhttps://seer.ufrgs.br/index.php/hcpa/article/view/126038/85602http://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessWajner, Moacir R. Vargas, Carmen Burin, Maira Giugliani, Roberto C. Coelho, Janice 2022-07-22T13:58:16Zoai:seer.ufrgs.br:article/126038Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2022-07-22T13:58:16Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.none.fl_str_mv Investigation of inborn errors of metabolism
Investigação de erros inatos do metabolismo
title Investigation of inborn errors of metabolism
spellingShingle Investigation of inborn errors of metabolism
Wajner, Moacir
: Erros inatos do metabolismo
investigação diagnóstica
doenças metabólicas
: Inborn errors of metabolism
diagnostic investigation
metabolic diseases
title_short Investigation of inborn errors of metabolism
title_full Investigation of inborn errors of metabolism
title_fullStr Investigation of inborn errors of metabolism
title_full_unstemmed Investigation of inborn errors of metabolism
title_sort Investigation of inborn errors of metabolism
author Wajner, Moacir
author_facet Wajner, Moacir
R. Vargas, Carmen
Burin, Maira
Giugliani, Roberto
C. Coelho, Janice
author_role author
author2 R. Vargas, Carmen
Burin, Maira
Giugliani, Roberto
C. Coelho, Janice
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Wajner, Moacir
R. Vargas, Carmen
Burin, Maira
Giugliani, Roberto
C. Coelho, Janice
dc.subject.por.fl_str_mv : Erros inatos do metabolismo
investigação diagnóstica
doenças metabólicas
: Inborn errors of metabolism
diagnostic investigation
metabolic diseases
topic : Erros inatos do metabolismo
investigação diagnóstica
doenças metabólicas
: Inborn errors of metabolism
diagnostic investigation
metabolic diseases
description Inborn errors of metabolism are inherited metabolic disorders individually rare, but, taken together, their overall frequence is about 1 case out of 1000 newborns. The present study aimed to describe the main clinical features, as well as the general principles of investigation for these diseases. They were divided into two categories, one of the small molecules (aminoacidopathies, organic acidemias, etc) and the other of the complex molecules (lisossomal storage disorders, peroxisomal disorders, etc). Some of the most frequent groups of inborn errors of metabolism such as the aminoacidopathies, the organic acidemias and the mucopolissacharidosis, were discussed in detail.
publishDate 2022
dc.date.none.fl_str_mv 2022-07-22
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Peer-reviewed Article"
A Convite dos Editores
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/126038
url https://seer.ufrgs.br/index.php/hcpa/article/view/126038
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/126038/85602
dc.rights.driver.fl_str_mv http://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv HCPA/FAMED/UFRGS
publisher.none.fl_str_mv HCPA/FAMED/UFRGS
dc.source.none.fl_str_mv Clinical & Biomedical Research; Vol. 21 No. 3 (2001): Revista HCPA
Clinical and Biomedical Research; v. 21 n. 3 (2001): Revista HCPA
2357-9730
reponame:Clinical and Biomedical Research
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Clinical and Biomedical Research
collection Clinical and Biomedical Research
repository.name.fl_str_mv Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)
repository.mail.fl_str_mv ||cbr@hcpa.edu.br
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