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  Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

Pilotto, A., Blau, N., Leks, E., Schulte, C., Deuschl, C., Zipser, C., et al. (2019). Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria. Journal of Inherited Metabolic Disease, 42(3), 398-406. doi:10.1002/jimd.12049.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E950-D Version Permalink: http://hdl.handle.net/21.11116/0000-0003-7ECC-B
Genre: Journal Article

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Pilotto, A, Author
Blau, N, Author
Leks, E, Author
Schulte, C, Author
Deuschl, C, Author
Zipser, C, Author
Piel, D, Author
Freisinger, P, Author
Gramer, G, Author
Kölker, S, Author
Haas, D, Author
Burgard, P, Author
Nawroth, P, Author
Georg, H, Author
Scheffler, K1, 2, Author              
Berg, D, Author
Trefz, F, Author
Affiliations:
1Department High-Field Magnetic Resonance, Max Planck Institute for Biological Cybernetics, Max Planck Society, ou_1497796              
2Max Planck Institute for Biological Cybernetics, Max Planck Society, Spemannstrasse 38, 72076 Tübingen, DE, ou_1497794              

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 Abstract: Biogenic amines synthesis in phenylketonuria (PKU) patients with high phenylalanine (Phe) concentration is thought to be impaired due to inhibition of tyrosine and tryptophan hydroxylases and competition with amino acids at the blood-brain barrier. Dopamine and serotonin deficits might explain brain damage and progressive neuropsychiatric impairment in adult PKU patients. Ten early treated adult PKU patients (mean age 38.2 years) and 15 age-matched controls entered the study. Plasma and cerebrospinal fluid (CSF) Phe, 5-hydroxyindoleacetic acid (5-HIAA), 5-hydroxytryptophan (5-HTP), 3,4-dihydroxy-l-phenylalanine (l-DOPA) and homovanillic acid (HVA) were analyzed. Voxel-based morphometry statistical nonparametric mapping was used to test the age-corrected correlation between gray matter atrophy and CSF biogenic amines levels. 5-HIAA and 5-HTP were significantly reduced in PKU patients compared to controls. Significant negative correlations were found between CSF 5-HIAA, HVA, and 5-HTP and Phe levels. A decrease in 5-HIAA and 5-HTP concentrations correlated with precuneus and frontal atrophy, respectively. Lower HVA levels correlated with occipital atrophy. Biogenic amines deficits correlate with specific brain atrophy patterns in adult PKU patients, in line with serotonin and dopamine projections. These findings may support a more rigorous Phe control in adult PKU to prevent neurotransmitter depletion and accelerated brain damage due to aging.

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 Dates: 2019-022019-05
 Publication Status: Published in print
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1002/jimd.12049
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Title: Journal of Inherited Metabolic Disease
  Other : J. Inherit. Metab. Dis.
Source Genre: Journal
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Publ. Info: Lancaster, Eng. : MTP Press.
Pages: - Volume / Issue: 42 (3) Sequence Number: - Start / End Page: 398 - 406 Identifier: ISSN: 0141-8955
CoNE: https://pure.mpg.de/cone/journals/resource/954925471350