Cargando…
Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?
Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with trea...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981257/ https://www.ncbi.nlm.nih.gov/pubmed/24765287 http://dx.doi.org/10.4081/cp.2011.e25 |
_version_ | 1782311007115280384 |
---|---|
author | Beckhauser, Mayara Thays Peruchi, Mirella Maccarini Rozone de Luca, Gizele Lin, Katia Esteves, Sofia Vilarinho, Laura Lin, Jaime |
author_facet | Beckhauser, Mayara Thays Peruchi, Mirella Maccarini Rozone de Luca, Gizele Lin, Katia Esteves, Sofia Vilarinho, Laura Lin, Jaime |
author_sort | Beckhauser, Mayara Thays |
collection | PubMed |
description | Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with treatment may result in damage of the brain function. Brain abnormalities can be seen on magnetic resonance imaging of these individuals. Studies indicate that the appearance of abnormalities in white matter reflects high levels of phenylalanine on the blood. This case will show the clinical and neuroradiological aspects of a teenager with constant control of phenylalanine levels. Despite the continuous monitoring and early treatment, the magnetic resonance imaging identified impressive abnormalities in the white matter. This leads us to one question: is the restriction of phenylalanine sufficient to prevent changes in the white matter in patients with phenylketonuria? |
format | Online Article Text |
id | pubmed-3981257 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | PAGEPress Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-39812572014-04-24 Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? Beckhauser, Mayara Thays Peruchi, Mirella Maccarini Rozone de Luca, Gizele Lin, Katia Esteves, Sofia Vilarinho, Laura Lin, Jaime Clin Pract Case Report Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with treatment may result in damage of the brain function. Brain abnormalities can be seen on magnetic resonance imaging of these individuals. Studies indicate that the appearance of abnormalities in white matter reflects high levels of phenylalanine on the blood. This case will show the clinical and neuroradiological aspects of a teenager with constant control of phenylalanine levels. Despite the continuous monitoring and early treatment, the magnetic resonance imaging identified impressive abnormalities in the white matter. This leads us to one question: is the restriction of phenylalanine sufficient to prevent changes in the white matter in patients with phenylketonuria? PAGEPress Publications 2011-05-03 /pmc/articles/PMC3981257/ /pubmed/24765287 http://dx.doi.org/10.4081/cp.2011.e25 Text en ©Copyright M.T. Beckhauser et al., 2011 This work is licensed under a Creative Commons Attribution 3.0 License (by-nc 3.0). Licensee PAGEPress, Italy |
spellingShingle | Case Report Beckhauser, Mayara Thays Peruchi, Mirella Maccarini Rozone de Luca, Gizele Lin, Katia Esteves, Sofia Vilarinho, Laura Lin, Jaime Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? |
title | Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? |
title_full | Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? |
title_fullStr | Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? |
title_full_unstemmed | Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? |
title_short | Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? |
title_sort | neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981257/ https://www.ncbi.nlm.nih.gov/pubmed/24765287 http://dx.doi.org/10.4081/cp.2011.e25 |
work_keys_str_mv | AT beckhausermayarathays neuroradiologicalfindingsofanadolescentwithearlytreatedphenylketonuriaisphenylalaninerestrictionenough AT peruchimirellamaccarini neuroradiologicalfindingsofanadolescentwithearlytreatedphenylketonuriaisphenylalaninerestrictionenough AT rozonedelucagizele neuroradiologicalfindingsofanadolescentwithearlytreatedphenylketonuriaisphenylalaninerestrictionenough AT linkatia neuroradiologicalfindingsofanadolescentwithearlytreatedphenylketonuriaisphenylalaninerestrictionenough AT estevessofia neuroradiologicalfindingsofanadolescentwithearlytreatedphenylketonuriaisphenylalaninerestrictionenough AT vilarinholaura neuroradiologicalfindingsofanadolescentwithearlytreatedphenylketonuriaisphenylalaninerestrictionenough AT linjaime neuroradiologicalfindingsofanadolescentwithearlytreatedphenylketonuriaisphenylalaninerestrictionenough |