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Clinics and Practice
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10.4081/cp.2011.e25
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Neuroradiological Findings of an Adolescent with Early Treated Phenylketonuria: Is Phenylalanine Restriction Enough?

by
Mayara Thays Beckhauser
1,
Mirella Maccarini Peruchi
2,
Gisele Rozone de Luca
1,
Katia Lin
3,
Sofia Esteves
4,
Laura Vilarinho
4 and
Jaime Lin
1,*
1
Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL), Av. José Acácio Moreira, Dehon. Tubarão, Santa Catarina 88704-900, Brazil
2
Department of Radiology, Hospital São João Batista, Santa Catarina, Brazil
3
Neurology Division, Department of Internal Medicine, Universidade Federal de Santa Catarina (UFSC), Santa Catarina, Brazil
4
Medical Genetics Center, National Health Institute (INSA), Porto, Portugal
*
Author to whom correspondence should be addressed.
Clin. Pract. 2011, 1(2), e25; https://doi.org/10.4081/cp.2011.e25
Submission received: 4 April 2011 / Revised: 4 April 2011 / Accepted: 15 April 2011 / Published: 3 May 2011

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 phenylketonuria; adolescent; demyelination; white matter; phenylalanine

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MDPI and ACS Style

Beckhauser, M.T.; Peruchi, M.M.; de Luca, G.R.; Lin, K.; Esteves, S.; Vilarinho, L.; Lin, J. Neuroradiological Findings of an Adolescent with Early Treated Phenylketonuria: Is Phenylalanine Restriction Enough? Clin. Pract. 2011, 1, e25. https://doi.org/10.4081/cp.2011.e25

AMA Style

Beckhauser MT, Peruchi MM, de Luca GR, Lin K, Esteves S, Vilarinho L, Lin J. Neuroradiological Findings of an Adolescent with Early Treated Phenylketonuria: Is Phenylalanine Restriction Enough? Clinics and Practice. 2011; 1(2):e25. https://doi.org/10.4081/cp.2011.e25

Chicago/Turabian Style

Beckhauser, Mayara Thays, Mirella Maccarini Peruchi, Gisele Rozone de Luca, Katia Lin, Sofia Esteves, Laura Vilarinho, and Jaime Lin. 2011. "Neuroradiological Findings of an Adolescent with Early Treated Phenylketonuria: Is Phenylalanine Restriction Enough?" Clinics and Practice 1, no. 2: e25. https://doi.org/10.4081/cp.2011.e25

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