Article
Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain.
Molecular genetics and metabolism - 1 Dec 2019
Berguig Geoffrey Y, Martin Nathan T, Creer Athena Y, Xie Lin, Zhang Lening, Murphy Ryan, Pacheco Glenn, Bullens Sherry, Olbertz Joy, Weng Haoling H
Abstract excerpt
In phenylketonuria (PKU), mutations of the phenylalanine hydroxylase (PAH) gene decrease the ability of PAH to convert phenylalanine (Phe) to tyrosine (Tyr), resulting in Phe accumulation in the blood and brain and disruption of neurotransmitter (NT) biosynthesis and metabolism. The following translational study explored the relationship between pegvaliase-mediated Phe correction in plasma and the NT biosynthesis...
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