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2024-12-01

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cc-by (c) Pardo, J. et al., 2024
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/221831

Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels

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Recurs relacionat

https://doi.org/10.1186/s11689-024-09553-w

Resum

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 < 0.05). Results: Adult patients with PKU showed significantly lower performance than HC in Full Scale IQ (t = 2.67; p = .010) from the WAIS-IV. The PKU group also showed significantly lower volumes than HC in the pallidum (U = 224.000; p = .008), hippocampus (U = 243.000; p = .020), amygdala (U = 200.000; p = .002), and brainstem (t = 3.17; p = .006) as well as in total cerebral white matter volume (U = 175.000; p = .001). Blood phenylalanine (Phe) levels in PKU patients were negatively correlated with the pallidum (r = -0.417; p = .013) and brainstem (r = -0.455, p = .006) volumes. Conclusions: Adult patients with early-treated PKU showed significantly lower global intelligence than HC. Moreover, these patients showed reduced global white matter volume as well as reductions in the volume of several subcortical grey matter structures, which might be related to the existence of underlying neurodevelopmental alterations. Higher blood Phe levels were also negatively correlated with pallidum and brainstem, suggesting a higher vulnerability of these structures to Phe toxicity.

Matèries

Pacients, Neuropsicologia, Cervell, Fenilcetonúria

Matèries (anglès)

Patients, Neuropsychology, Brain, Phenylketonuria

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Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Institut de Neurociències (UBNeuro))

Citació

PARDO, Jèssica, CAPDEVILA LACASA, Clara, SEGURA I FÀBREGAS, Bàrbara, PANÉ, Adriana, MONTSERRAT, Cristina, FORGA VISA, María de talló, MORENO, Pedro juan, GARRABOU TORNOS, Glòria, GRAU JUNYENT, Josep m. (josep maria), JUNQUÉ I PLAJA, Carme, Consortium PKU.cat. Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels. _Journal Of Neurodevelopmental Disorders_. 2024. Vol. 16, núm. 1. [consulta: 24 de gener de 2026]. ISSN: 1866-1947. [Disponible a: https://hdl.handle.net/2445/221831]

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