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Phenylketonuria (PKU) is an inherited disease in which the body cannot metabolize a protein called Phenylalanine. It is estimated that one baby in 13,500 to 19,000 is born with PKU in the United States. Without treatment, PKU can cause mental retardation.
Newborn screening for PKU is required in all 50 states. Medical professionals perform the screening soon after birth, testing blood taken from the baby’s heel.
Infants with PKU may be asymptomatic for many weeks. However, when PKU infants begin to eat foods containing phenylalanine, they can display delays in development, small head size, mental retardation, seizures, hyperactivity, and a decreased growth rate. Dietary restriction of phenylalanine is needed to treat PKU and should begin as soon as possible after birth and continue throughout the life of the individual with PKU.
Mothers with PKU who do not adhere to the special diet necessary to manage the disease during pregnancy have a higher risk of having a child with Tetralogy of Fallot, a congenital heart defect.
UT Southwestern Medical Center is a leader in genetic research, screening, and care of adult and pediatric patients with genetic disorders such as PKU. Working with Children’s Health, our pediatric Genetics and Metabolism Clinics are the only clinics in North Texas specializing in the diagnosis and treatment of children with inborn errors of metabolism.