How is pku passed on

The condition is uncommon in this country, only affecting about 1 in 10, to 15, newborns each year. The severe signs and symptoms of PKU are rare in the United States, as early screening allows treatment to begin soon after birth.

Early diagnosis and treatment can help relieve symptoms of PKU and prevent brain damage. PKU symptoms can range from mild to severe. The most severe form of this disorder is known as classic PKU.

An infant with classic PKU may appear normal for the first few months of their life. This occurs when the baby has too much phenylalanine in their body. Once a specific diet and other necessary treatments are started, symptoms start to diminish.

The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine.

A dangerous buildup of phenylalanine can occur when someone eats high-protein foods, such as eggs and meat. Both parents must pass on a defective version of the PAH gene for their child to inherit the disorder.

Since the s, hospitals in the United States have routinely screened newborns for PKU by taking a blood sample. The screening test is performed when the baby is one to two days old and still in the hospital. Additional tests may be performed to confirm the initial results.

These tests are often done within six weeks after birth. If a child or adult shows symptoms of PKU, such as developmental delays, the doctor will order a blood test to confirm the diagnosis. This test involves taking a sample of blood and analyzing it for the presence of the enzyme needed to break down phenylalanine. People with PKU can relieve their symptoms and prevent complications by following a special diet and by taking medications. The main way to treat PKU is to eat a special diet that limits foods containing phenylalanine.

Infants with PKU may be fed breast milk. These low levels mean that phenylalanine from a person's diet cannot be metabolized changed , so it builds up to toxic levels in the bloodstream and body.

Having too much phenylalanine can cause brain damage unless diet treatment is started. Genetic Testing Registry: Phenylketonuria. About Phenylketonuria. What is phenylketonuria PKU? What are the symptoms of PKU? How is PKU diagnosed? What is the treatment for PKU?

Is PKU inherited? There are several special formulas made for infants with PKU. These can be used as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids.

Older children and adults use a different formula that provides protein in the amounts they need. People with PKU need to take formula every day for their entire life. The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth.

If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired. If proteins containing phenylalanine are not avoided, PKU can lead to mental disability by the end of the first year of life. Severe mental disability occurs if the disorder is untreated. ADHD attention-deficit hyperactivity disorder appears to be a common problem in those who do not stick to a very low-phenylalanine diet.

Call your health care provider if your infant has not been tested for PKU. This is particularly important if anyone in your family has the disorder. An enzyme assay or genetic testing can determine if parents carry the gene for PKU. Chorionic villus sampling or amniocentesis can be done during pregnancy to test the unborn baby for PKU.

It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy. Buildup of phenylalanine will damage the developing baby, even if the child has not inherited the full disease. Hi Your dashboard sign out. Need help? Frequently asked questions Contact us. Baby Caring for your baby Feeding your baby. Ambassadors Ambassadors Celebrity Advocate Council.

Mission stories Spotlights Impact Stories. PKU Phenylketonuria in your baby. E-mail to a friend Please fill in all fields. Please enter a valid e-mail address. Thank you! Your e-mail was sent. Save to my dashboard Sign in or Sign up to save this page. Saving Just a moment, please.

You've saved this page It's been added to your dashboard. In This Topic. What causes PKU?