Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/214138 |
Resumo: | Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using highperformance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study was to evaluate Phe levels in DBS measured by two different methods and compare them with Phe levels measured in plasma by HPLC. We analyzed 89 blood samples from 47 PKU patients by two different methods: fluorometric method developed in-house (method A) and the commercially available PerkinElmer® Neonatal Phenylalanine Kit (method B) and in plasma by HPLC. The mean Phe levels by method A, method B, and HPLC were 430.4±39.9μmol/L, 439.3±35.4μmol/L, and 442.2±41.6μmol/L, respectively. The correlation values between HPLC and methods A and B were 0.990 and 0.974, respectively (p<0.001 for both). Our data suggest that methods A and B are useful alternatives for monitoring Phe levels in patients with PKU, with method A being in closer agreement with the reference standard (HPLC). |
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Sebastião, Fernanda MedeirosBurin, Maira GraeffCivallero, Gabriel Eduardo SantiagoTirelli, Kristiane MichelinSitta, AngelaCoelho, Daniella de MouraVargas, Carmen ReglaWajner, MoacirGiugliani, RobertoBitencourt, Fernanda Hendges deSchwartz, Ida Vanessa Doederlein2020-10-14T03:48:46Z20202326-4594http://hdl.handle.net/10183/214138001117762Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using highperformance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study was to evaluate Phe levels in DBS measured by two different methods and compare them with Phe levels measured in plasma by HPLC. We analyzed 89 blood samples from 47 PKU patients by two different methods: fluorometric method developed in-house (method A) and the commercially available PerkinElmer® Neonatal Phenylalanine Kit (method B) and in plasma by HPLC. The mean Phe levels by method A, method B, and HPLC were 430.4±39.9μmol/L, 439.3±35.4μmol/L, and 442.2±41.6μmol/L, respectively. The correlation values between HPLC and methods A and B were 0.990 and 0.974, respectively (p<0.001 for both). Our data suggest that methods A and B are useful alternatives for monitoring Phe levels in patients with PKU, with method A being in closer agreement with the reference standard (HPLC).application/pdfengJournal of inborn errors of metabolism & screening. Porto Alegre. Vol. 8 (2020), e20190011, 9 p.FenilcetonúriasFluorometriaTerapêuticaSeguimentosPhenylketonuriaTreatment follow-upFluorometric assayMonitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methodsinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001117762.pdf.txt001117762.pdf.txtExtracted Texttext/plain27838http://www.lume.ufrgs.br/bitstream/10183/214138/2/001117762.pdf.txt13be4b27e66701ed2da07be93eb56733MD52ORIGINAL001117762.pdfTexto completo (inglês)application/pdf335164http://www.lume.ufrgs.br/bitstream/10183/214138/1/001117762.pdf7e13e99c306b74b8723f5b8cf87599e2MD5110183/2141382023-06-24 03:38:29.941188oai:www.lume.ufrgs.br:10183/214138Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-06-24T06:38:29Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods |
title |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods |
spellingShingle |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods Sebastião, Fernanda Medeiros Fenilcetonúrias Fluorometria Terapêutica Seguimentos Phenylketonuria Treatment follow-up Fluorometric assay |
title_short |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods |
title_full |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods |
title_fullStr |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods |
title_full_unstemmed |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods |
title_sort |
Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods |
author |
Sebastião, Fernanda Medeiros |
author_facet |
Sebastião, Fernanda Medeiros Burin, Maira Graeff Civallero, Gabriel Eduardo Santiago Tirelli, Kristiane Michelin Sitta, Angela Coelho, Daniella de Moura Vargas, Carmen Regla Wajner, Moacir Giugliani, Roberto Bitencourt, Fernanda Hendges de Schwartz, Ida Vanessa Doederlein |
author_role |
author |
author2 |
Burin, Maira Graeff Civallero, Gabriel Eduardo Santiago Tirelli, Kristiane Michelin Sitta, Angela Coelho, Daniella de Moura Vargas, Carmen Regla Wajner, Moacir Giugliani, Roberto Bitencourt, Fernanda Hendges de Schwartz, Ida Vanessa Doederlein |
author2_role |
author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Sebastião, Fernanda Medeiros Burin, Maira Graeff Civallero, Gabriel Eduardo Santiago Tirelli, Kristiane Michelin Sitta, Angela Coelho, Daniella de Moura Vargas, Carmen Regla Wajner, Moacir Giugliani, Roberto Bitencourt, Fernanda Hendges de Schwartz, Ida Vanessa Doederlein |
dc.subject.por.fl_str_mv |
Fenilcetonúrias Fluorometria Terapêutica Seguimentos |
topic |
Fenilcetonúrias Fluorometria Terapêutica Seguimentos Phenylketonuria Treatment follow-up Fluorometric assay |
dc.subject.eng.fl_str_mv |
Phenylketonuria Treatment follow-up Fluorometric assay |
description |
Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using highperformance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study was to evaluate Phe levels in DBS measured by two different methods and compare them with Phe levels measured in plasma by HPLC. We analyzed 89 blood samples from 47 PKU patients by two different methods: fluorometric method developed in-house (method A) and the commercially available PerkinElmer® Neonatal Phenylalanine Kit (method B) and in plasma by HPLC. The mean Phe levels by method A, method B, and HPLC were 430.4±39.9μmol/L, 439.3±35.4μmol/L, and 442.2±41.6μmol/L, respectively. The correlation values between HPLC and methods A and B were 0.990 and 0.974, respectively (p<0.001 for both). Our data suggest that methods A and B are useful alternatives for monitoring Phe levels in patients with PKU, with method A being in closer agreement with the reference standard (HPLC). |
publishDate |
2020 |
dc.date.accessioned.fl_str_mv |
2020-10-14T03:48:46Z |
dc.date.issued.fl_str_mv |
2020 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/other |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
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publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/214138 |
dc.identifier.issn.pt_BR.fl_str_mv |
2326-4594 |
dc.identifier.nrb.pt_BR.fl_str_mv |
001117762 |
identifier_str_mv |
2326-4594 001117762 |
url |
http://hdl.handle.net/10183/214138 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Journal of inborn errors of metabolism & screening. Porto Alegre. Vol. 8 (2020), e20190011, 9 p. |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
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