Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study
Autor(a) principal: | |
---|---|
Data de Publicação: | 2021 |
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=S2326-45942021000100325 |
Resumo: | Abstract Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake. |
id |
IGPT-1_67c505cc73428a7762f7878d0a805cfb |
---|---|
oai_identifier_str |
oai:scielo:S2326-45942021000100325 |
network_acronym_str |
IGPT-1 |
network_name_str |
Journal of Inborn Errors of Metabolism and Screening |
repository_id_str |
|
spelling |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional StudyBone mineral densityPAH deficiencyPKUPhenylketonuriaPhenylalanineAbstract Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2021-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100325Journal of Inborn Errors of Metabolism and Screening v.9 2021reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1590/2326-4594-jiems-2021-0017info:eu-repo/semantics/openAccessAggarwal,AnjaliNorthrup,HopeRodriguez-Buritica,David F.Hashmi,S. ShahrukhSaavedra,Heathereng2021-10-15T00:00:00Zoai:scielo:S2326-45942021000100325Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2021-10-15T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study |
title |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study |
spellingShingle |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study Aggarwal,Anjali Bone mineral density PAH deficiency PKU Phenylketonuria Phenylalanine |
title_short |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study |
title_full |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study |
title_fullStr |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study |
title_full_unstemmed |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study |
title_sort |
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study |
author |
Aggarwal,Anjali |
author_facet |
Aggarwal,Anjali Northrup,Hope Rodriguez-Buritica,David F. Hashmi,S. Shahrukh Saavedra,Heather |
author_role |
author |
author2 |
Northrup,Hope Rodriguez-Buritica,David F. Hashmi,S. Shahrukh Saavedra,Heather |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Aggarwal,Anjali Northrup,Hope Rodriguez-Buritica,David F. Hashmi,S. Shahrukh Saavedra,Heather |
dc.subject.por.fl_str_mv |
Bone mineral density PAH deficiency PKU Phenylketonuria Phenylalanine |
topic |
Bone mineral density PAH deficiency PKU Phenylketonuria Phenylalanine |
description |
Abstract Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). Sample size of the study population was 27. Enrolled patients underwent multi-site Dual-energy X-ray absorptiometry (DXA) scan and laboratory tests. Nutritional and physical activity records were obtained on each subject to ascertain bone health. BMD in patients with PKU was low normal. 14% of the study subjects were found to have osteoporosis in at least one measured skeletal site. 70% had low BMD in one or more of the measured skeletal sites. BMD score was lowest at radius. Moderate correlation was observed between femoral and radial BMD and serum calcium level. Dietary intake of vitamin A was moderately correlated with BMD T-scores in femur. Our results indicate that BMD in patients with PKU is low normal with better BMD with vitamin A intake, trend towards better bone health with physical exercise and Sapropterin intake. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01-01 |
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=S2326-45942021000100325 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100325 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/2326-4594-jiems-2021-0017 |
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.9 2021 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_ |
1754732520278065152 |