Phenylketonuria (PKU) is a disorder where an amino acid called ... in the patient experiencing random muscle spasms, frequent seizures, and other disturbances in general motor function.

Medically reviewed by Aviv Joshua, MS, RDN Phenylalanine is an essential amino acid (building block of protein) that the body ...

behavioral symptoms or seizures. “These new data provide further evidence of the meaningful benefit sepiapterin can provide for children and adults with PKU, including those with the most severe ...

Phenylketonuria (PKU) is a rare, inherited metabolic disease ... such as permanent intellectual disability, seizures, delayed development, memory loss, and behavioral and emotional problems.