What does a positive PKU test mean?
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 diseases does the PKU test for?
Newborn Screening Tests
- Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine.
- Congenital hypothyroidism.
- Sickle cell disease.
- Maple syrup urine disease.
- Biotinidase deficiency.
- Congenital adrenal hyperplasia.
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.
What is PKU and how is it treated?
The main treatment for PKU is a low-protein diet that completely avoids high-protein foods (such as meat, eggs and dairy products) and controls the intake of many other foods, such as potatoes and cereals.
What is normal PKU level?
Normal levels of phenylalanine in the blood are less than 2 milligrams per deciliter (mg/dL). More than 4 mg/dL of phenylalanine in the blood is considered high and may mean your child has PKU.
When is PKU diagnosed?
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.
How is PKU test done?
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.
When is 2nd PKU test done?
The American Academy of Pediatrics recommends that a PKU screening test be repeated by two weeks of age if it was performed before the newborn was 24 hours of age.
Can PKU be cured?
There is no cure for PKU. The most important treatment is a diet that limits foods with phenylalanine. This means the diet must be low in protein. Newborns diagnosed with the disease must use special infant formula.
Can you live a normal life with PKU?
PKU leads to a build-up of the amino acid phenylalanine, which is toxic to the nervous system. Without treatment, PKU can cause intellectual disabilities. PKU does not shorten life expectancy, with or without treatment.
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.
How do you perform a PKU test?
Health care providers conduct a PKU screening test using a few drops of blood from a newborn’s heel. The blood sample, which can be used to screen for other conditions as well, is tested in a laboratory to determine if it has too much phenylalanine in it.
How to diagnose PKU?
PKU is diagnosed through a routine neonatal screening performed at the hospital by law in the USA, as well as in many other developed countries. The test is performed as soon as the child is born and involves taking a drop of blood from the baby’s heel.
When is PKU test performed?
The test varies by state, with some states looking for more disorders than others. The PKU test should be done after the infant is at least 24 to 48 hours old but within the first 7 days of life. It is usually done before a newborn baby leaves the hospital.
What effect does PKU have on the body?
Too much phenylalanine in the body causes problems with the brain and other organs. Damage from a buildup of phenylalanine can begin within the first month of life and, if undetected and/or untreated, PKU results in severe mental retardation, hyperactivity, and seizures.