PKU probability problem and solution

What causes PKU? PKU is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of each pair from each parent. Sometimes the instructions in genes change. This is called a gene change or a mutation. Parents can pass gene changes to their children. Sometimes a gene change can cause a gene to not work correctly. Sometimes it can cause birth defects or other health conditions. A birth defect is a health condition that is present in a baby at birth. Your baby has to inherit a gene change for PKU from both parents to have PKU. If she inherits the gene from just one parent, she has the gene change for PKU, but she doesn’t have PKU. When this happens, your baby is called a PKU carrier. A PKU carrier has the gene change but doesn’t have PKU. How do you know if your baby has PKU? All babies have a newborn screening test for PKU. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening. With newborn screening, PKU can be found and treated early so babies can grow up healthy. Before your baby leaves the hospital, his health care provider takes a few drops of blood from his heel. The blood is collected on a special paper and sent to a lab for testing. The lab then sends the results back to your baby’s provider. If newborn screening results aren’t normal, it simply means your baby needs more testing. Your baby’s provider can recommend another kind of test, called a diagnostic test. This test can check to see if your baby has PKU or if there is some other cause for abnormal test results. If your baby is tested before he’s a full day old, it’s possible for the test to miss PKU. Some experts recommend that if your baby was tested within the first 24 hours of life, he should be tested again at 1 to 2 weeks of age. What problems can PKU cause? Babies born with PKU seem normal for the first few months of life. But without treatment, they begin to have signs and symptoms of the illness at about 6 months of age. These include: Jerky movements in arms and legs Lighter skin and eyes (Babies with PKU can’t properly make melanin, the pigment in the body that’s responsible for skin and hair color.) Musty body smell Seizures Skin rashes Small head size Taking longer than expected to sit, crawl or walk Losing interest in surroundings Delays in mental and social skills Intellectual disabilities Behavior problems, like being hyperactive If your baby has PKU, what kind of treatment does he need? If your baby has PKU, he may need testing as often as once a week or more often for the first year of life to check his phenylalanine levels. After that, he may have testing once or twice a month throughout childhood. Your baby needs to follow a special meal plan that is low in phenylalanine. It’s best to start this meal plan as soon as possible, ideally within the first 7 to 10 days of life. At first, your baby gets a special protein formula that has reduced phenylalanine. Protein is important to help your baby grow and develop. The amount of phenylalanine in the formula is controlled to meet you baby’s individual needs. Your baby also can have some breast milk. Your breast milk has phenylalanine in it, so talk to your baby’s provider to find out how much breast milk your baby can have. #ProbabilityMeasurementSystem #PhenylketonuriaDiseaseOrMedicalCondition #genetics #phenylalanine #PKU