Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of Inborn Errors of Metabolism and Screening |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100351 |
Resumo: | Abstract Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr). Here we aimed to examine the metabolism of Phe and Tyr in heterozygotes for PKU during fasting and after oral overload of Phe (25 mg/kg). Plasma concentration of Phe and Tyr and Phe2–Tyr ratio were determined under fasting condition or 30, 45, 60, and 90 minutes after Phe overload. The sample consisted of 50 participants: 23 heterozygotes for PKU (10 men and 13 women) and a control group of 27 healthy individuals (13 men and 14 women). The dosage of Phe at 45 and 90 minutes and the micromolar fraction of Phe2/Tyr after 90 minutes of overload efficiently differentiated PKU heterozygotes. The discriminant function revealed 86% of accuracy. In fact, 94.4% of heterozygotes for PKU were correctly classified. |
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Journal of Inborn Errors of Metabolism and Screening |
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|
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Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individualsinborn errors of metabolismheterozygotesphenylalanineoverloadAbstract Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr). Here we aimed to examine the metabolism of Phe and Tyr in heterozygotes for PKU during fasting and after oral overload of Phe (25 mg/kg). Plasma concentration of Phe and Tyr and Phe2–Tyr ratio were determined under fasting condition or 30, 45, 60, and 90 minutes after Phe overload. The sample consisted of 50 participants: 23 heterozygotes for PKU (10 men and 13 women) and a control group of 27 healthy individuals (13 men and 14 women). The dosage of Phe at 45 and 90 minutes and the micromolar fraction of Phe2/Tyr after 90 minutes of overload efficiently differentiated PKU heterozygotes. The discriminant function revealed 86% of accuracy. In fact, 94.4% of heterozygotes for PKU were correctly classified.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2015-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100351Journal of Inborn Errors of Metabolism and Screening v.3 2015reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409815573962info:eu-repo/semantics/openAccessAndrade,RoseaniMonteiro,VaneisseCruz,CleberSilva,CarlaBastos,AdrianaSilva,Luizeng2019-06-17T00:00:00Zoai:scielo:S2326-45942015000100351Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-06-17T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals |
title |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals |
spellingShingle |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals Andrade,Roseani inborn errors of metabolism heterozygotes phenylalanine overload |
title_short |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals |
title_full |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals |
title_fullStr |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals |
title_full_unstemmed |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals |
title_sort |
Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals |
author |
Andrade,Roseani |
author_facet |
Andrade,Roseani Monteiro,Vaneisse Cruz,Cleber Silva,Carla Bastos,Adriana Silva,Luiz |
author_role |
author |
author2 |
Monteiro,Vaneisse Cruz,Cleber Silva,Carla Bastos,Adriana Silva,Luiz |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Andrade,Roseani Monteiro,Vaneisse Cruz,Cleber Silva,Carla Bastos,Adriana Silva,Luiz |
dc.subject.por.fl_str_mv |
inborn errors of metabolism heterozygotes phenylalanine overload |
topic |
inborn errors of metabolism heterozygotes phenylalanine overload |
description |
Abstract Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr). Here we aimed to examine the metabolism of Phe and Tyr in heterozygotes for PKU during fasting and after oral overload of Phe (25 mg/kg). Plasma concentration of Phe and Tyr and Phe2–Tyr ratio were determined under fasting condition or 30, 45, 60, and 90 minutes after Phe overload. The sample consisted of 50 participants: 23 heterozygotes for PKU (10 men and 13 women) and a control group of 27 healthy individuals (13 men and 14 women). The dosage of Phe at 45 and 90 minutes and the micromolar fraction of Phe2/Tyr after 90 minutes of overload efficiently differentiated PKU heterozygotes. The discriminant function revealed 86% of accuracy. In fact, 94.4% of heterozygotes for PKU were correctly classified. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100351 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942015000100351 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1177/2326409815573962 |
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 |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening v.3 2015 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
instname_str |
Instituto Genética para Todos (IGPT) |
instacron_str |
IGPT |
institution |
IGPT |
reponame_str |
Journal of Inborn Errors of Metabolism and Screening |
collection |
Journal of Inborn Errors of Metabolism and Screening |
repository.name.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT) |
repository.mail.fl_str_mv |
jiems@jiems-journal.org||rgiugliani@hcpa.edu.br |
_version_ |
1754732519886946304 |