Phenylalanine Effects on Brain Function in Adult Phenylketonuria

医学 壳核 内科学 萎缩 神经心理学 苯丙氨酸 内分泌学 胃肠病学 儿科 认知 精神科 生物 生物化学 氨基酸
作者
Andrea Pilotto,Carl Moritz Zipser,Edytha Leks,Dorothea Haas,Gwendolyn Gramer,Peter Freisinger,Eva Schaeffer,Inga Liepelt‐Scarfone,Kathrin Brockmann,Walter Maetzler,Claudia Schulte,Christian Deuschle,Ann Kathrin Hauser,Georg F. Hoffmann,Klaus Scheffler,Francjan J. van Spronsen,Alessandro Padovani,Friedrich K. Trefz,Daniela Berg
出处
期刊:Neurology [Lippincott Williams & Wilkins]
卷期号:96 (3) 被引量:39
标识
DOI:10.1212/wnl.0000000000011088
摘要

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.
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