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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...

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Autores principales: Beckhauser, Mayara Thays, Peruchi, Mirella Maccarini, Rozone de Luca, Gizele, Lin, Katia, Esteves, Sofia, Vilarinho, Laura, Lin, Jaime
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
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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?
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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
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