Preclinical characterization of SLC6A19 inhibitor JNT-517 divulged at ACS
Aug. 22, 2023
Phenylketonuria (PKU) is an inborn error of metabolism caused by heritable phenylalanine hydroxylase gene mutations that result in decreased metabolism of phenylalanine (Phe) causing brain damage. The most severe phenotype termed PKU occurs when untreated individuals achieve plasma Phe concentrations of >1200 microM/L, which are neurotoxic.