Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria

Stefano Puglisi-Allegra, Simona Cabib, Tiziana Pascucci, Rossella Ventura, Francesco Calì, Valentino Romano

Research output: Contribution to journalArticlepeer-review


Clinical data suggest that brain catecholamines and serotonin are deficient in phenylketonuria (PKU), an inherited metabolic disorder that causes severe mental retardation and neurological disturbances. To test this hypothesis, brain tissue levels of dopamine (DA), norepinephrine (NE), 5- hydroxytryptamine (5-HT) and their metabolites were evaluated in the genetic mouse model of PKU (Pah(enu2)). Results indicated a significant reduction of 5-HT levels and metabolism in prefrontal cortex (pFC), cingulate cortex (Cg), nucleus accumbens (NAc), caudate putamen (CP), hippocampus (HIP) and amygdala (AMY). NE content and metabolism were reduced in pFC, Cg, AMY and HIP. Finally, significantly reduced DA content and metabolism was observed in pFC, NAc, CP and AMY. In pFC, NAc and CP there was also a marked reduction of DA release. (C) 2000 Lippincott Williams and Wilkins.

Original languageEnglish
Pages (from-to)1361-1364
Number of pages4
Issue number6
Publication statusPublished - Apr 27 2000


  • Basal ganglia
  • Catecholamines
  • Mutant mice
  • Phenylalanine hydroxylase
  • Phenylketonuria
  • Serotonin
  • Tryptophan
  • Tyrosine

ASJC Scopus subject areas

  • Neuroscience(all)


Dive into the research topics of 'Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria'. Together they form a unique fingerprint.

Cite this