Aminergic deficit is one of the abnormalities found in the brain of hyperphenylalaninemic patients and a mouse model of PKU. Liver-targeted gene therapy has been previously reported to correct hyperphenylalaninemia and concomitant behavioral recovery in PKU mice. In this study Yagi et al. provide evidence that the functional recovery is mediated by reversal of the aminergic deficit (improved amine metabolism: dopamine, norepinephrine, and serotonin levels) in the brain of PKU mice along with the systemic improvement of phenylalanine levels.
Recovery of neurogenic amines in phenylketonuria mice after liver-targeted gene therapy.Â Yagi et al. Neuroreport. 2012 Jan 4;23(1):30-4. PMID: 22107842
posted by Yannis Trakadis MD, MSc