Phenylketonuria

What is Phenylketonuria?

Phenylketonuria (PKU) is an autosomal recessive disorder caused by deficiency of the enzyme phenylalanine hydroxylase. Without phenylalanine hydroxylase, phenylalanine builds up in the patient, and may cause neurocognitive issues. What is the Pathology of Phenylketonuria? The pathology of phenylketonuria is:…