Synthesis Of PKU Summary

To understand the mechanism of action of PKU, the image above illustrates the pathway process in which phenylalanine should be synthesized. Normally, L-phenylalanine is converted to L-tyrosine with the help of an enzyme called phenylalanine hydroxylase, PAH. PAH is also carried out by a non-protein cofactor, tetrahydrobiopterin or BH4, which is eventually recycled during the process. In PKU, the common impairment occurs with PAH, which results in an accumulation of phenylalanine in the plasma. This also results in urine excretion of phenylpyruvic acid and phenylacetic acid. L-tyrosine is involved in the neurologic development, dopamine and the conversion of melanin. With this not being able to be produced due to impaired PAH, neurologic