What is pku disorder

We will work with you and your child to establish a diet he can be on for life. A: If your child follows the diet correctly to get all the nutrients he needs, there should not be any side effects. A: The answer depends on who your child has a baby with. PKU is a recessive disease, meaning that the child with PKU gets two abnormal genes, one from each parent.

If your child has a baby with someone who does not have a PKU gene has two normal genes none of the babies will have PKU. Following the strict diet can be difficult, and may lead to stress and anxiety.

If it is followed correctly there should not be any physical effects on the body. The PKU diet is complicated and hard to manage. For Patients. Fax Number International Contact the Metabolism Program What is PKU? What kinds of diets do children with PKU need to adopt? Is there a medication that may help children with PKU? How common is PKU? Who is at risk for PKU? Before signs are apparent, however, the brain may already be damaged, so treatment needs to begin during the first weeks of life before this happens Symptoms of PKU can include: IQ loss severe intellectual disabilities skin rashes eczema pale skin and blue eyes Phenylalanine usually turns into melanin which gives color to hair and skin tone.

PKU prevents phenylalanine from turning into melanin. 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. They usually also need to consume a special formula known as Lofenalac.

When your baby is old enough to eat solid foods, you need to avoid letting them eat foods high in protein. These foods include:. It contains all the amino acids that the body needs, except for phenylalanine. There are also certain low-protein, PKU-friendly foods that can be found at specialty health stores.

People with PKU will have to follow these dietary restrictions and consume PKU formula throughout their lives to manage their symptoms. People with PKU need to work closely with a doctor or dietitian to maintain a proper balance of nutrients while limiting their intake of phenylalanine.

They also have to monitor their phenylalanine levels by keeping records of the amount of phenylalanine in the foods they eat throughout the day. Some state legislatures have enacted bills that provide some insurance coverage for the foods and formulas necessary to treat PKU. Check with your state legislature and medical insurance company to find out if this coverage is available for you. Sapropterin helps lower phenylalanine levels. This medication must be used in combination with a special PKU meal plan.

This can lead to various problems in the baby, including:. The long-term outlook for people with PKU is very good if they follow a PKU meal plan closely and shortly after birth.

When diagnosis and treatment are delayed, brain damage may occur. Untreated PKU can also eventually cause:. However, an enzyme assay can be done for people who plan on having children. An enzyme assay is a blood test that can determine whether someone carries the defective gene that causes PKU. The test may also be done during pregnancy to screen unborn babies for PKU. Thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin. Learn more about its symptoms and how it's diagnosed.

Protein is important to help your baby grow and develop. When your baby is ready to eat solid foods, they can eat vegetables, fruits, some grains like low-protein cereals, breads and pasta and other low-phenylalanine foods. If your baby has PKU, they should not eat:.

PKU meal plans are different for each baby and can vary over time depending on how much phenylalanine your baby can tolerate. Health care providers at a medical center or clinic that has a special program to treat PKU can help you create a meal plan for your baby.

Your child will follows the PKU meal plan through their whole life. If they eventually get pregnant, they follow their meal plan throughout pregnancy. Most pregnant and parenting people who have PKU can have healthy pregnancies and healthy babies. The medicine is more likely to work in people with mild or special forms of PKU.

They still need regular blood tests to check phenylalanine levels. See also: Genetic counseling , Newborn screening. Get expert tips and resources from March of Dimes and CDC to increase your chance of having a healthy, fully-term pregnancy and baby. March of Dimes leads the fight for the health of all moms and babies.

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