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Phenylalanine effects on brain function in adult Phenylketonuria

Objective To evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria. - Methods In this prospective cross-sectional study, early-treated patients with phenylketonuria older than 30 years and age- and sex-match...

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Main Authors: Pilotto, Andrea (Author) , Zipser, Carl M. (Author) , Leks, Edytha (Author) , Haas, Dorothea (Author) , Gramer, Gwendolyn (Author) , Freisinger, Peter (Author) , Schaeffer, Eva (Author) , Liepelt-Scarfone, Inga (Author) , Brockmann, Kathrin (Author) , Maetzler, Walter (Author) , Schulte, Claudia (Author) , Deuschle, Christian (Author) , Hauser, Ann Kathrin (Author) , Hoffmann, Georg F. (Author) , Scheffler, Klaus (Author) , Spronsen, Francjan J. van (Author) , Padovani, Alessandro (Author) , Trefz, Friedrich K. (Author) , Berg, Daniela (Author)
Format: Article (Journal)
Language:English
Published: 2021
In: Neurology
Year: 2021, Volume: 96, Issue: 3, Pages: e399-e411
ISSN:1526-632X
DOI:10.1212/WNL.0000000000011088
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1212/WNL.0000000000011088
Verlag, lizenzpflichtig, Volltext: https://n.neurology.org/content/96/3/e399
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Author Notes:Andrea Pilotto, MD, Carl M. Zipser, MD, Edytha Leks, MD, Dorothea Haas, MD, Gwendolyn Gramer, MD, Peter Freisinger, MD, Eva Schaeffer, MD, Inga Liepelt-Scarfone, PhD, Kathrin Brockmann, MD, Walter Maetzler, MD, Claudia Schulte, Bio, Christian Deuschle, Ann Kathrin Hauser, Georg F. Hoffmann, MD, Klaus Scheffler, MD, Francjan J. van Spronsen, MD, Alessandro Padovani, MD, PhD, Friedrich Trefz, MD, and Daniela Berg, MD
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Summary:Objective To evaluate the relationship between circulating phenylalanine and brain function as well as neuropsychiatric symptoms in adults with phenylketonuria. - Methods 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. - Results 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 (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. - Conclusions Our study provides strong evidence for a correlation between phenylalanine levels and clinical, neuropsychological, neurophysiologic, biochemical, and imaging alterations in adult patients with phenylketonuria.
Item Description:Gesehen am 19.08.2021
First published: October 22, 2020
Physical Description:Online Resource
ISSN:1526-632X
DOI:10.1212/WNL.0000000000011088

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