Phenylketonuria: Insights into Pathophysiology and Novel Therapeutics
John D. Wiley Conference Center, Waisman Center 1500 Highland Ave., Madison, WIPhenylketonuria (PKU), due to recessively inherited phenylalanine hydroxylase (PAH) deficiency, is among the most common inborn errors of metabolism with an incidence of 1:16,000 live births in the US. PAH deficiency causes accumulation of the amino acid phenylalanine (Phe) to extremely high concentrations throughout the body but most importantly in brain. The precise molecular mechanisms…