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Phenylalanine effects on brain function in adult phenylketonuria
- Source :
- Neurology, Neurology, 96(3), E399-E411. LIPPINCOTT WILLIAMS & WILKINS, Neurology 96(3), e399-e411 (2021). doi:10.1212/WNL.0000000000011088
- Publication Year :
- 2021
-
Abstract
- ObjectiveTo evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria.MethodsIn 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.ResultsNineteen 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 (p= 0.003), total tau (p< 0.001), and phosphorylated tau (p= 0.032) levels compared to controls. Plasma phenylalanine levels highly correlated with the number of failed neuropsychological tests (r= 0.64,p= 0.003), neuropsychiatric symptoms (r= 0.73,p< 001), motor evoked potential latency (r= 0.48,p= 0.030), and parietal lobe atrophy.ConclusionsOur study provides strong evidence for a correlation between phenylalanine levels and clinical, neuropsychological, neurophysiologic, biochemical, and imaging alterations in adult patients with phenylketonuria.
- Subjects :
- 0301 basic medicine
Male
Cross-sectional study
Phenylalanine
Neuropsychological Tests
GUIDELINES
Gastroenterology
DOPAMINE
0302 clinical medicine
Cognition
Thalamus
blood [Phenylketonurias]
Phenylketonurias
blood [Phenylalanine]
diagnostic imaging [Phenylketonurias]
Prospective Studies
Prospective cohort study
blood [Atrophy]
medicine.diagnostic_test
Putamen
Neuropsychology
physiology [Cognition]
Magnetic Resonance Imaging
DEFICIENCY
PKU
Female
DEPLETION
medicine.drug
Adult
medicine.medical_specialty
diagnostic imaging [Putamen]
physiology [Evoked Potentials, Motor]
03 medical and health sciences
Atrophy
psychology [Atrophy]
Dopamine
Internal medicine
medicine
MANAGEMENT
Humans
ddc:610
psychology [Phenylketonurias]
diagnostic imaging [Thalamus]
business.industry
Magnetic resonance imaging
diagnostic imaging [Atrophy]
medicine.disease
COGNITIVE IMPAIRMENT
Evoked Potentials, Motor
COMORBIDITIES
DYSFUNCTION
INDIVIDUALS
030104 developmental biology
Cross-Sectional Studies
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 00283878
- Database :
- OpenAIRE
- Journal :
- Neurology, Neurology, 96(3), E399-E411. LIPPINCOTT WILLIAMS & WILKINS, Neurology 96(3), e399-e411 (2021). doi:10.1212/WNL.0000000000011088
- Accession number :
- edsair.doi.dedup.....0ac994d5861d2fadb2a4b55ab8a8f135