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A PKU test is used to see if a newborn has high blood levels of Phe in their blood. This may mean the baby has PKU. More tests may be needed to confirm or rule out a diagnosis.
A simple blood test looks for rare conditions, including phenylketonuria (PKU), which can harm your baby’s growing brain. PKU is a rare genetic condition that affects metabolism -- the way your...
Newborn screening identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU.
This is a blood test to screen newborns for phenylketonuria (PKU), a condition that can cause brain damage and severe intellectual disability if it goes untreated. The problems usually appear in the first year of life, causing infants to appear unusually sleepy and listless.
Newborn screening for PKU is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page. During screening, a special machine measures how much phenylalanine is in your baby’s blood.
Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. Signs and symptoms of untreated PKU can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.
Newborn screening tests may include: Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. It is estimated that one in every 10,000 to 15,000 babies is born with PKU in the U.S. Without treatment, PKU can cause intellectual disability.