Abstract
Cerebral neurotransmitter (NT) deficiency has been suggested as a contributing factor in the pathophysiology of brain dysfunction in phenylketonuria (PKU), even in early-treated phenylketonuric patients. The study aimed to review dopamine and serotonin status in PKU, and the effect of the impaired neurotransmission. Several mechanisms are involved in the pathophysiology of PKU, primarily characterized by impaired dopamine and serotonin synthesis. These deficits are related to executive dysfunctions and social-emotional problems, respectively, in early treated patients. Blood phenylalanine is the main biomarker for treatment compliance follow-up, but further investigations and validation of peripheral biomarkers may be performed to monitor NT status. The development of new therapies is needed not only for decreasing blood and brain phenylalanine levels but also to improve NT syntheses.
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