The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population
Autor(a) principal: | |
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Data de Publicação: | 2017 |
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=S2326-45942017000100310 |
Resumo: | Abstract Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborns and to correlate it based on their sex, gestational age, and weight for gestational age to determine whether these are risk factors that predict the development of TNT. A cross-sectional descriptive study was conducted from January 2006 to August 2017. We analyzed 175 976 of newborn screening reports and found that the overall incidence of TNT was 1 (0.29%) in 342 newborns. It is more prevalent in preterm infants and in small for gestational age newborns (0.35%).The TNT incidence was determined in this Mexican population, and it was established as the most frequently occurring amino acid defect. We propose that pediatricians intentionally search for this pathology to offer patients access to adequate and timely treatment. |
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Journal of Inborn Errors of Metabolism and Screening |
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The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population4-hydroxyphenylpyruvate dioxygenase deficiencytransient neonatal tyrosinemianewbornincidenceLatin AmericaAbstract Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborns and to correlate it based on their sex, gestational age, and weight for gestational age to determine whether these are risk factors that predict the development of TNT. A cross-sectional descriptive study was conducted from January 2006 to August 2017. We analyzed 175 976 of newborn screening reports and found that the overall incidence of TNT was 1 (0.29%) in 342 newborns. It is more prevalent in preterm infants and in small for gestational age newborns (0.35%).The TNT incidence was determined in this Mexican population, and it was established as the most frequently occurring amino acid defect. We propose that pediatricians intentionally search for this pathology to offer patients access to adequate and timely treatment.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2017-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100310Journal of Inborn Errors of Metabolism and Screening v.5 2017reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409817744230info:eu-repo/semantics/openAccessZea-Rey,Alexandra V.Cruz-Camino,HéctorVazquez-Cantu,Diana L.Gutiérrez-García,Valeria M.Santos-Guzmán,JesúsCantú-Reyna,Consueloeng2019-05-14T00:00:00Zoai:scielo:S2326-45942017000100310Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-05-14T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
title |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
spellingShingle |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population Zea-Rey,Alexandra V. 4-hydroxyphenylpyruvate dioxygenase deficiency transient neonatal tyrosinemia newborn incidence Latin America |
title_short |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
title_full |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
title_fullStr |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
title_full_unstemmed |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
title_sort |
The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population |
author |
Zea-Rey,Alexandra V. |
author_facet |
Zea-Rey,Alexandra V. Cruz-Camino,Héctor Vazquez-Cantu,Diana L. Gutiérrez-García,Valeria M. Santos-Guzmán,Jesús Cantú-Reyna,Consuelo |
author_role |
author |
author2 |
Cruz-Camino,Héctor Vazquez-Cantu,Diana L. Gutiérrez-García,Valeria M. Santos-Guzmán,Jesús Cantú-Reyna,Consuelo |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Zea-Rey,Alexandra V. Cruz-Camino,Héctor Vazquez-Cantu,Diana L. Gutiérrez-García,Valeria M. Santos-Guzmán,Jesús Cantú-Reyna,Consuelo |
dc.subject.por.fl_str_mv |
4-hydroxyphenylpyruvate dioxygenase deficiency transient neonatal tyrosinemia newborn incidence Latin America |
topic |
4-hydroxyphenylpyruvate dioxygenase deficiency transient neonatal tyrosinemia newborn incidence Latin America |
description |
Abstract Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborns and to correlate it based on their sex, gestational age, and weight for gestational age to determine whether these are risk factors that predict the development of TNT. A cross-sectional descriptive study was conducted from January 2006 to August 2017. We analyzed 175 976 of newborn screening reports and found that the overall incidence of TNT was 1 (0.29%) in 342 newborns. It is more prevalent in preterm infants and in small for gestational age newborns (0.35%).The TNT incidence was determined in this Mexican population, and it was established as the most frequently occurring amino acid defect. We propose that pediatricians intentionally search for this pathology to offer patients access to adequate and timely treatment. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-01-01 |
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=S2326-45942017000100310 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100310 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1177/2326409817744230 |
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.5 2017 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_ |
1754732519979220992 |