Conventional Phenylketonuria Treatment
Autor(a) principal: | |
---|---|
Data de Publicação: | 2016 |
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=S2326-45942016000100321 |
Resumo: | Abstract Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system. The fundamental purpose of nutritional treatment is to reduce and maintain blood Phe between 2 mg/dL (120 µmol/L) and 6 mg/dL (360 µmol/L) in order to prevent neuropathogenic complications. At the same time, nutrition support must provide enough energy and nutrients to promote normal growth and development and also to avoid vitamin and mineral deficiencies. Phenylketonuria treatment must be maintained long-life and its adherence must be frequently assessed. The amount of Phe required by patients with PKU varies throughout life and must be adjusted according to individual tolerance, residual phenylalanine hydroxylase enzymatic activity, age, sex, growth rate, protein intake, and nutritional and biochemical status among others. Treatment must be done by trained personnel. It is necessary to unify treatment criteria and further research must be done. |
id |
IGPT-1_9a7492e1187edfc117749ac9780bafd3 |
---|---|
oai_identifier_str |
oai:scielo:S2326-45942016000100321 |
network_acronym_str |
IGPT-1 |
network_name_str |
Journal of Inborn Errors of Metabolism and Screening |
repository_id_str |
|
spelling |
Conventional Phenylketonuria Treatmentphenylketonuriaphenylalanine hydroxylase deficiencynutritional treatmentconventional treatmentLatin AmericaAbstract Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system. The fundamental purpose of nutritional treatment is to reduce and maintain blood Phe between 2 mg/dL (120 µmol/L) and 6 mg/dL (360 µmol/L) in order to prevent neuropathogenic complications. At the same time, nutrition support must provide enough energy and nutrients to promote normal growth and development and also to avoid vitamin and mineral deficiencies. Phenylketonuria treatment must be maintained long-life and its adherence must be frequently assessed. The amount of Phe required by patients with PKU varies throughout life and must be adjusted according to individual tolerance, residual phenylalanine hydroxylase enzymatic activity, age, sex, growth rate, protein intake, and nutritional and biochemical status among others. Treatment must be done by trained personnel. It is necessary to unify treatment criteria and further research must be done.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2016-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100321Journal of Inborn Errors of Metabolism and Screening v.4 2016reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1177/2326409816685733info:eu-repo/semantics/openAccessSara,Guillén-LópezAlejandra,López-Mejía LizbethIsabel,Ibarra-GonzálezMarcela,Vela-Amievaeng2019-05-28T00:00:00Zoai:scielo:S2326-45942016000100321Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2019-05-28T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Conventional Phenylketonuria Treatment |
title |
Conventional Phenylketonuria Treatment |
spellingShingle |
Conventional Phenylketonuria Treatment Sara,Guillén-López phenylketonuria phenylalanine hydroxylase deficiency nutritional treatment conventional treatment Latin America |
title_short |
Conventional Phenylketonuria Treatment |
title_full |
Conventional Phenylketonuria Treatment |
title_fullStr |
Conventional Phenylketonuria Treatment |
title_full_unstemmed |
Conventional Phenylketonuria Treatment |
title_sort |
Conventional Phenylketonuria Treatment |
author |
Sara,Guillén-López |
author_facet |
Sara,Guillén-López Alejandra,López-Mejía Lizbeth Isabel,Ibarra-González Marcela,Vela-Amieva |
author_role |
author |
author2 |
Alejandra,López-Mejía Lizbeth Isabel,Ibarra-González Marcela,Vela-Amieva |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Sara,Guillén-López Alejandra,López-Mejía Lizbeth Isabel,Ibarra-González Marcela,Vela-Amieva |
dc.subject.por.fl_str_mv |
phenylketonuria phenylalanine hydroxylase deficiency nutritional treatment conventional treatment Latin America |
topic |
phenylketonuria phenylalanine hydroxylase deficiency nutritional treatment conventional treatment Latin America |
description |
Abstract Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system. The fundamental purpose of nutritional treatment is to reduce and maintain blood Phe between 2 mg/dL (120 µmol/L) and 6 mg/dL (360 µmol/L) in order to prevent neuropathogenic complications. At the same time, nutrition support must provide enough energy and nutrients to promote normal growth and development and also to avoid vitamin and mineral deficiencies. Phenylketonuria treatment must be maintained long-life and its adherence must be frequently assessed. The amount of Phe required by patients with PKU varies throughout life and must be adjusted according to individual tolerance, residual phenylalanine hydroxylase enzymatic activity, age, sex, growth rate, protein intake, and nutritional and biochemical status among others. Treatment must be done by trained personnel. It is necessary to unify treatment criteria and further research must be done. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-01-01 |
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=S2326-45942016000100321 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942016000100321 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1177/2326409816685733 |
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.4 2016 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_ |
1754732519935180800 |