P029: The effects of the pharmacological chaperone sepiapterin on phenylalanine hydroxylase activity of common variants in phenylketonuria*

This is the authors' abstract. We don't add key points for this paper.

Phenylketonuria (PKU) is caused by a deficiency of phenylalanine hydroxylase (PAH), the enzyme that converts phenylalanine (Phe) to tyrosine. Pathogenic mutations in the PAH gene result in elevated Phe levels, causing neurological damage. Current therapeutic options include Phe-restricted diet, pegvaliase enzyme substitution or application of the cofactor tetrahydrobiopterin (sapropterin) as a pharmacological chaperone treatment. Pharmacological chaperones of PAH confer stability against thermal unfolding, resulting in enhanced activity and prolongation of various PAH variants.