Phenylketonuria (PKU) is a rare, inherited metabolic disease in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
When levels of phenylalanine build up to a toxic level in your child’s body, damage can occur in the central nervous system and the brain. Infants with the condition may experience delayed mental and social skills, hyperactivity, seizures, and skin rashes. They also tend to have lighter skin, hair, and eyes, as phenylalanine also plays a role in the body’s production of melanin. The buildup of phenylalanine may also cause your child’s breath, skin, and urine to have a musty odor.
Fortunately, babies with these complications are rare because babies are usually screened for PKU with a heel-prick test soon after birth and treatment is immediately started. With treatment, babies can live nearly normal lives.
Our approach
Infants, children, and adolescents with phenylketonuria receive comprehensive specialty care by our multidisciplinary Pediatric Phenylketonuria (PKU) Clinic team. PKU is treatable, mainly by use of a special diet that is low in phenylalanine, sometimes called a “Diet for Life.” This requires close supervision by our providers in conjunction with registered dietitians. Some people who have PKU can be treated with a specific medicine.
