Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Adult
Atrophy
/ blood
Cognition
/ physiology
Cross-Sectional Studies
Evoked Potentials, Motor
/ physiology
Female
Humans
Magnetic Resonance Imaging
Male
Neuropsychological Tests
Phenylalanine
/ blood
Phenylketonurias
/ blood
Prospective Studies
Putamen
/ diagnostic imaging
Thalamus
/ diagnostic imaging
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
19 01 2021
19 01 2021
Historique:
received:
05
03
2020
accepted:
01
09
2020
pubmed:
24
10
2020
medline:
2
2
2021
entrez:
23
10
2020
Statut:
ppublish
Résumé
To evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria. In this prospective cross-sectional study, early-treated patients with phenylketonuria older than 30 years and age- and sex-matched controls were included. Extensive neurologic evaluation, neuropsychological and behavioral testing, sensory and motor evoked potentials, and MRI were performed. CSF concentrations of neurodegenerative markers were evaluated in addition in a subset of 10 patients. Nineteen patients with phenylketonuria (median age 41 years) with different phenylalanine levels (median 873 μmol/L) entered the study. They showed higher prevalence of neurologic symptoms, cognitive and behavioral abnormalities, autonomic dysfunction, alterations in neurophysiologic measures, and atrophy in putamen and right thalamus compared to controls. In CSF, patients with phenylketonuria exhibited higher β-amyloid 1-42 ( Our study provides strong evidence for a correlation between phenylalanine levels and clinical, neuropsychological, neurophysiologic, biochemical, and imaging alterations in adult patients with phenylketonuria.
Identifiants
pubmed: 33093221
pii: WNL.0000000000011088
doi: 10.1212/WNL.0000000000011088
doi:
Substances chimiques
Phenylalanine
47E5O17Y3R
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e399-e411Informations de copyright
© 2020 American Academy of Neurology.