The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

Detalhes bibliográficos
Autor(a) principal: Vargas,Carmen R
Data de Publicação: 2020
Outros Autores: Deon,Marion, Sitta,Angela, Coelho,Daniella M, Silva,Patricia D, Murussi,Larissa, Fleith,Laura V, Crespo,Carolina, Wajner,Moacir, Sanseverino,Maria Teresa V
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702
Resumo: ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil.
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spelling The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiencymitochondrial β-oxidation defectsMCADDfastingacylcarnitinesorganic acidsABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil.Sociedade Brasileira de Patologia Clínica2020-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702Jornal Brasileiro de Patologia e Medicina Laboratorial v.56 2020reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)instname:Sociedade Brasileira de Patologia (SBP)instacron:SBP10.5935/1676-2444.20200011info:eu-repo/semantics/openAccessVargas,Carmen RDeon,MarionSitta,AngelaCoelho,Daniella MSilva,Patricia DMurussi,LarissaFleith,Laura VCrespo,CarolinaWajner,MoacirSanseverino,Maria Teresa Veng2020-05-06T00:00:00Zoai:scielo:S1676-24442020000100702Revistahttp://www.scielo.br/jbpmlhttps://old.scielo.br/oai/scielo-oai.php||jbpml@sbpc.org.br1678-47741676-2444opendoar:2020-05-06T00:00Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)false
dc.title.none.fl_str_mv The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
title The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
spellingShingle The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
Vargas,Carmen R
mitochondrial β-oxidation defects
MCADD
fasting
acylcarnitines
organic acids
title_short The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
title_full The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
title_fullStr The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
title_full_unstemmed The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
title_sort The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency
author Vargas,Carmen R
author_facet Vargas,Carmen R
Deon,Marion
Sitta,Angela
Coelho,Daniella M
Silva,Patricia D
Murussi,Larissa
Fleith,Laura V
Crespo,Carolina
Wajner,Moacir
Sanseverino,Maria Teresa V
author_role author
author2 Deon,Marion
Sitta,Angela
Coelho,Daniella M
Silva,Patricia D
Murussi,Larissa
Fleith,Laura V
Crespo,Carolina
Wajner,Moacir
Sanseverino,Maria Teresa V
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Vargas,Carmen R
Deon,Marion
Sitta,Angela
Coelho,Daniella M
Silva,Patricia D
Murussi,Larissa
Fleith,Laura V
Crespo,Carolina
Wajner,Moacir
Sanseverino,Maria Teresa V
dc.subject.por.fl_str_mv mitochondrial β-oxidation defects
MCADD
fasting
acylcarnitines
organic acids
topic mitochondrial β-oxidation defects
MCADD
fasting
acylcarnitines
organic acids
description ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil.
publishDate 2020
dc.date.none.fl_str_mv 2020-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/1676-2444.20200011
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
dc.source.none.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial v.56 2020
reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
instname:Sociedade Brasileira de Patologia (SBP)
instacron:SBP
instname_str Sociedade Brasileira de Patologia (SBP)
instacron_str SBP
institution SBP
reponame_str Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
collection Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
repository.name.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)
repository.mail.fl_str_mv ||jbpml@sbpc.org.br
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