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

  • Mayara Thays Beckhauser | may_zinhahh@hotmail.com Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL), Brazil.
  • 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?

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Author Biographies

Mayara Thays Beckhauser, Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL)

Department of Biology, Medicine and Social Sciences - Undergraduate Student

Mirella Maccarini Peruchi, Department of Radiology, Hospital São João Batista
Department of Radiology - Neuroradiologist
Gisele Rozone de Luca, Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL)
Department of Biology, Medicine and Social Sciences - Professor of Medical Genetics
Katia Lin, Neurology Division, Department of Internal Medicine, Universidade Federal de Santa Catarina (UFSC), Santa Catarina
Department of internal Medicine - Professor of Neurology Ph.D
Jaime Lin, Department of Biology, Medicine and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL)
Department of Biology, Medicine and Social Sciences - Professor of Pediatric Neurology MSc.
Published
2011-05-03
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Section
Case Reports
Keywords:
phenylketonuria, adolescent, demyelination, white matter, phenylalanine.
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How to Cite
Beckhauser, M. T., Peruchi, M. M., de Luca, G. R., Lin, K., Esteves, S., Vilarinho, L., & Lin, J. (2011). Neuroradiological findings of an adolescent with early treated phenylketonuria: is phenylalanine restriction enough?. Clinics and Practice, 1(2), e25. https://doi.org/10.4081/cp.2011.e25