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Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?

Mayara Thays Beckhauser, Mirella Maccarini Peruchi, Gisele Rozone de Luca, Katia Lin, Sofia Esteves, Laura Vilarinho, Jaime Lin
  • Mayara Thays Beckhauser
    Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL), Brazil | may_zinhahh@hotmail.com
  • Mirella Maccarini Peruchi
    Department of Radiology, Hospital São João Batista, Brazil
  • Gisele Rozone de Luca
    Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL), Brazil
  • Katia Lin
    Neurology Division, Department of Internal Medicine, Universidade Federal de Santa Catarina (UFSC), Santa Catarina, Brazil
  • Sofia Esteves
    Medical Genetics Center, National Health Institute (INSA), Porto, Portugal
  • Laura Vilarinho
    Medical Genetics Center, National Health Institute (INSA), Porto, Portugal
  • Jaime Lin
    Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL), Brazil

Abstract

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?

Keywords

phenylketonuria, adolescent, demyelination, white matter, phenylalanine.

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Submitted: 2011-04-04 22:50:52
Published: 2011-05-03 18:44:47
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Copyright (c) 2011 Mayara Thays Beckhauser, Mirella Maccarini Peruchi, Gisele Rozone de Luca, Katia Lin, Sofia Esteves, Laura Vilarinho, Jaime Lin

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