Phenylketonuria (PKU) Test

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Test Overview

A phenylketonuria (PKU) test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. Phenylalanine is an amino acid 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 mental retardation.

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 are tested for PKU right after birth. Each year, about 250 U.S. children get PKU.¹ 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 gene from each parent. The United States Preventive Services Task Force recommends that all newborns be tested for PKU.²

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. A follow-up test is usually done at age 7 to 10 days. A urine PKU test is done on a baby who did not have a blood test and who is older than 6 weeks.

Last updated:	February 27, 2008
Author:	Debby Golonka, MPH
Reviewed By:	Michael J. Sexton, MD - Pediatrics, Thomas Emmett Francoeur, MDCM, CSPQ, FRCPC - Pediatrics
Editors:	Susan Van Houten, RN, BSN, MBA, Pat Truman, MATC