What is a normal PKU level?

A normal level is less than 2 milligrams per deciliter (mg/dL). More than 4 mg/dL is considered high. Even if your baby’s results aren’t in that range, it doesn’t necessarily mean they has PKU. It means they need more tests to find out for sure.

What is being measured in the urine of an infant with PKU?

PKU affects approximately one in 15,000 people in the US annually. Prior to the creation of the Guthrie test, doctors tested infants for PKU with a less reliable ferric chloride urine test. The ferric chloride urine test detected the presence of phenols, including phenylpyruvate, in urine.

How is PKU measured?

A PKU test is done a day or two after your baby’s birth. The test is done after your baby is 24 hours old and after your baby has ingested some protein in the diet to ensure accurate results. A nurse or lab technician collects a few drops of blood from your baby’s heel or the bend in your baby’s arm.

What does a positive PKU test indicate?

Positive phenylketonuria (PKU) test: The test looks for phenylalanine levels in the blood, which should be less than 2 mg/dL. A blood phenylalanine level of more than 4 mg/dL is considered excessive and could indicate that the child has PKU.

What does PKU test for in newborns?

A PKU screening test is a blood test given to newborns 24–72 hours after birth. PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down a substance called phenylalanine (Phe). Phe is part of proteins that are found in many foods and in an artificial sweetener called aspartame.

At what age does PKU become evident?

Babies who have PKU seem normal for the first few months of life. But without treatment, they begin to show signs and symptoms of the illness at about 6 months of age.

Is PKU test necessary?

Although PKU is rare, all newborns in the United States are required to get a PKU test. The test is easy, with virtually no health risk. But it can save a baby from lifelong brain damage and/or other serious health problems. If PKU is found early, following a special, low-protein/low-Phe diet can prevent complications.

What happens if a baby has PKU?

A baby born to a woman who has PKU that is not controlled with a special diet is at high risk for serious problems. The developing baby in the uterus can be exposed to very high levels of phenylalanine. This can cause low birth weight, slow growth, small head, behavior problems, and heart disorders.

Can babies with PKU live a normal life?

If PKU is confirmed, treatment will be given straight away to reduce the risk of serious complications. Treatment includes a special diet and regular blood tests. With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives. About 1 in 10,000 babies born in the UK has PKU.