Mol Med 1

Question 1

What is phenylketonuria?

Answer 1

Phenylketonuria (PKU) is a genetic disorder characterized by the inability of the body to properly metabolize an amino acid called phenylalanine. This amino acid is a building block of proteins found in many foods.

In individuals with PKU, a specific enzyme called phenylalanine hydroxylase, which is responsible for converting phenylalanine into another amino acid called tyrosine, is either deficient or absent. As a result, phenylalanine accumulates in the blood and body tissues, leading to elevated levels in the bloodstream.