What happens if you have PKU?
Joseph Russell
Updated on February 23, 2026
Treatment: Diet low in foods that contain phen Click to see full answer. Moreover, how does PKU affect the body?Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. When this enzyme is missing, your body can’t break down phenylalanine. This causes a buildup of phenylalanine in your body.Similarly, what is the life expectancy of a person with phenylketonuria? PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child’s outlook is very good if she strictly follows the diet. Keeping this in view, what happens if PKU is left untreated? When mothers with PKU have high blood phenylalanine levels during pregnancy, fetal birth defects or miscarriage can occur. Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life. Neurological problems such as seizures and tremors.What does it mean to have PKU?Phenylketonuria (also called PKU) is a condition in which your body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes health problems.