Phenylketonuria (PKU) Test

A Reference phenylketonuria (PKU) Opens New Window test is done to check whether a newborn baby has the Reference enzyme Opens New Window needed to use phenylalanine in his or her body. Phenylalanine is an Reference amino acid Opens New Window that is needed for normal growth and development. If a baby's body does not have the enzyme that changes phenylalanine into another amino acid called tyrosine, the phenylalanine level builds up in the baby's blood and can cause brain damage, seizures, and Reference intellectual disability Opens New Window.

The damage caused by PKU can begin weeks after the baby has started drinking breast milk or formula. Babies with PKU need foods low in phenylalanine to prevent severe brain damage. Phenylalanine is found in most foods that have protein, such as milk, cheese, and meats.

It is important to find this disease early. All babies in the United States and Canada are tested for PKU right after birth. PKU occurs more in whites and Native Americans and is less common in blacks, Hispanics, and Asians. To have the disease, you must inherit the Reference gene Opens New Window from each parent. The Reference United States Preventive Services Task Force Opens New Window recommends that all newborns be tested for PKU.^{Reference 1}

The blood sample for PKU is usually taken from your baby's heel (called a heel stick). The test is done in the first few days after birth, as early as 24 hours after birth. The test may be repeated within the first week or two after birth.

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