Key Indicators Of Phenylketonuria

Phenylketonuria (PKU) is a disorder where an amino acid called phenylalanine accumulates inappropriately in the body. Phenylalanine is a protein building block the body obtains through the consumption of food. Phenylketonuria occurs when there is a mutation of the PAH gene, which produces the enzyme responsible for the breakdown of phenylalanine called phenylalanine hydroxylase. Without enough phenylalanine hydroxylase, the body cannot process phenylalanine from the diet effectively. Nerve cells within the brain are exceptionally sensitive to levels of phenylalanine, which explains why a buildup of this substance in the blood and other tissues can result in damage to the brain. A newborn baby affected by phenylketonuria will not exhibit any symptoms at first. However, untreated babies will develop symptoms within the first several months of life.