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@ARTICLE{Pilotto:140655,
      author       = {Pilotto, Andrea and Blau, Nenad and Leks, Edytha and
                      Schulte, Claudia and Deuschle, Christian and Zipser, Carl
                      and Piel, David and Freisinger, Peter and Gramer, Gwendolyn
                      and Kölker, Stefan and Haas, Dorothea and Burgard, Peter
                      and Nawroth, Peter and Georg, Hoffmann and Scheffler, Klaus
                      and Berg, Daniela and Trefz, Friedrich},
      title        = {{C}erebrospinal fluid biogenic amines depletion and brain
                      atrophy in adult patients with phenylketonuria.},
      journal      = {Journal of inherited metabolic disease},
      volume       = {42},
      number       = {3},
      issn         = {0141-8955},
      address      = {Dordrecht [u.a.]},
      publisher    = {Springer Science + Business Media B.V},
      reportid     = {DZNE-2020-06977},
      pages        = {398-406},
      year         = {2019},
      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.},
      keywords     = {Adult / Atrophy / Biogenic Amines: blood / Biogenic Amines:
                      cerebrospinal fluid / Case-Control Studies / Female / Gray
                      Matter: pathology / Homovanillic Acid: blood / Homovanillic
                      Acid: cerebrospinal fluid / Humans / Linear Models /
                      Magnetic Resonance Imaging / Male / Middle Aged /
                      Phenylketonurias: blood / Phenylketonurias: cerebrospinal
                      fluid},
      cin          = {AG Berg / AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)5000055 / I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30706953},
      doi          = {10.1002/jimd.12049},
      url          = {https://pub.dzne.de/record/140655},
}