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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| Format: | Article |
| Language: | English |
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MDPI AG
2011-05-01
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| Series: | Clinics and Practice |
| Subjects: | |
| Online Access: | https://www.clinicsandpractice.org/index.php/cp/article/view/73 |
| _version_ | 1817992163023126528 |
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| author | Mayara Thays Beckhauser Mirella Maccarini Peruchi Gisele Rozone de Luca Katia Lin Sofia Esteves Laura Vilarinho Jaime Lin |
| author_facet | Mayara Thays Beckhauser Mirella Maccarini Peruchi Gisele Rozone de Luca Katia Lin Sofia Esteves Laura Vilarinho Jaime Lin |
| author_sort | Mayara Thays Beckhauser |
| collection | DOAJ |
| 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? |
| first_indexed | 2024-04-14T01:22:50Z |
| format | Article |
| id | doaj.art-af3dfb281c944ebd852d24d8f367fd94 |
| institution | Directory Open Access Journal |
| issn | 2039-7275 2039-7283 |
| language | English |
| last_indexed | 2024-04-14T01:22:50Z |
| publishDate | 2011-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Clinics and Practice |
| spelling | doaj.art-af3dfb281c944ebd852d24d8f367fd942022-12-22T02:20:35ZengMDPI AGClinics and Practice2039-72752039-72832011-05-011210.4081/cp.2011.e2529Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?Mayara Thays Beckhauser0Mirella Maccarini Peruchi1Gisele Rozone de Luca2Katia Lin3Sofia Esteves4Laura Vilarinho5Jaime Lin6Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL)Department of Radiology, Hospital São João BatistaDepartment of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL)Neurology Division, Department of Internal Medicine, Universidade Federal de Santa Catarina (UFSC), Santa CatarinaMedical Genetics Center, National Health Institute (INSA), PortoMedical Genetics Center, National Health Institute (INSA), PortoDepartment of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL)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?https://www.clinicsandpractice.org/index.php/cp/article/view/73phenylketonuriaadolescentdemyelinationwhite matterphenylalanine. |
| spellingShingle | Mayara Thays Beckhauser Mirella Maccarini Peruchi Gisele Rozone de Luca Katia Lin Sofia Esteves Laura Vilarinho Jaime Lin Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough? Clinics and Practice phenylketonuria adolescent demyelination white matter phenylalanine. |
| 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 | phenylketonuria adolescent demyelination white matter phenylalanine. |
| url | https://www.clinicsandpractice.org/index.php/cp/article/view/73 |
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