1. Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels
- Author
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Jèssica Pardo, Clara Capdevila-Lacasa, Bàrbara Segura, Adriana Pané, Cristina Montserrat, Maria de Talló Forga-Visa, Pedro J. Moreno, Glòria Garrabou, Josep M. Grau-Junyent, Carme Junqué, and Consortium PKU.cat.
- Subjects
Phenylketonuria ,Adult early-treated patients ,Blood phenylalanine levels ,Neuroimaging ,Volumetry ,Neuropsychological assessment ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Abstract Background Continued dietary treatment since early diagnosis through newborn screening programs usually prevents brain-related complications in phenylketonuria (PKU). However, subtle neurocognitive and brain alterations may be observed in some adult patients despite early treatment. Nevertheless, neuropsychological and neuroimaging studies in the field remain scarce. Objectives This work aimed to determine possible neuropsychological and structural brain alterations in treated adult patients with PKU. Methods Thirty-five patients with PKU and 22 healthy controls (HC) underwent neuropsychological assessment and T1-weighted magnetic resonance imaging on a 3 T scanner. FreeSurfer (v.7.1) was used to obtain volumetric measures and SPSS (v27.0.1.0) was used to analyze sociodemographic, neuropsychological, volumetric, and clinical data (p
- Published
- 2024
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