Phenylketonuria is induced by an error in phenylalanine metabolism, which is due to the lack or dysfunction of phenylalanine hydroxylase, involved in the conversion into tyrosine. By this metabolism, the concentration of phenylalanine in the blood is elevated. A patient with phenylalaninemia (...
It is believed that the molecular imprinted polymer (MIP), which specifically binds L-tyrosine (Tyr) described for the 5thaspect is a novel chemical entity. Its basic chemical composition is identical with that of the MIP of the second aspect of the invention, meaning that the molar ratio bet...
Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for Phe hydroxylase (PAH), found on chromosome 12. In the body, Phe hydroxylase converts the amino acid Phe to Tyr, another amino acid. Mutations in both copies of the gene for PAH means tha...
International Journal of Molecular Sciences Article Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenylalanine Hydroxylase María Conde-Giménez 1,2, Juan José Galano-Frutos 1,2 , María Galiana-Cameo 1,2,†, Alejandro Mahía 1,2, Bruno L. Victor 3,‡ , Sandra ...