Phenylketonuria (also called PKU) is a condition in which your body can’t break down an amino acid called phenylalanine. Amino acids help build protein in your body. Without treatment, phenylalanine builds up in the blood and causes health problems. Show In the United States, about 1 in 10,000 to 15,000 babies is born with PKU each year. The illness happens in all ethnic groups. But it’s more common in white, American Indian or Alaska Native people than in Black, Ashkenazi Jewish or Japanese people. 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 they inherit the gene from just one parent, they have the gene change for PKU but they don’t have PKU. When this happens, your baby is called a PKU carrier. How do you know if your baby has PKU?All babies are screened for PKU soon after they’re born. Finding PKU early helps doctors treat it so babies can grow up healthy. Before your baby leaves the hospital, their health care provider takes a few drops of blood from their heel. The blood is collected on a special paper and sent to a lab for testing. 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 another cause for abnormal test results. If your baby is tested before they are 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, they should be tested again at 1 to 2 weeks of age. What problems can PKU cause?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. These include:
If your baby has PKU, what kind of treatment do they need?If your baby has PKU, they may need testing as often as once a week or more often for the first year of life to check their phenylalanine levels. After that, they 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 your baby’s individual needs. Your baby also can have some breast milk/chest milk. Breast milk has phenylalanine in it, so talk to your baby’s provider to find out how much your baby can have. 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. Ask your baby’s health care provider for information on a medical center or clinic that treats PKU. 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 Kuvan® (sapropterin dihydrochloride) can help some people who have PKU. The medicine is more likely to work in people with mild or special forms of PKU. Children who take Kuvan® must follow a special meal plan, but it may not be as strict as one for those not taking the drug. They still need regular blood tests to check phenylalanine levels. More informationSee also: Genetic counseling, Newborn screening Last reviewed: May, 2021 Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein. These amino acids are then used to make our own proteins. Any amino acids that are not needed are broken down further and removed from the body. People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This can lead to brain damage. At around 5 days old, babies are offered newborn blood spot screening to test for PKU and many other conditions. This involves pricking your baby's heel to collect drops of blood to test. 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. PKU does not usually cause any symptoms if treatment is started early. Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. Other symptoms of untreated PKU include:
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. In addition, people with PKU must take an amino acid supplement to ensure they're getting all the nutrients required for normal growth and good health. There are also several low-protein versions of common foods (such as flour, rice and pasta) specifically designed for people with PKU and related conditions to incorporate into their diets. Many of these are available on prescription. If a high phenylalanine level is confirmed, a baby will immediately be started on a low-protein diet and amino acid supplements. Phenylalanine levels are regularly monitored by collecting blood from a finger prick on to a special card and sending it to a laboratory. A dietitian will create a detailed dietary plan for your child that can be revised as your child grows and their needs change. As long as a person with PKU sticks to a low-protein diet throughout childhood, and their phenylalanine levels stay within certain limits, they'll remain well and their natural intelligence will be unaffected. AspartamePeople with PKU must also avoid food products that contain aspartame, as it's converted into phenylalanine in the body. Aspartame is a sweetener found in:
All food products that contain aspartame or a related product should be clearly labelled. There are also medicines that contain aspartame, such as some children's cold and flu remedies. It's a legal requirement for any medicine that contains aspartame to state it on the patient information leaflet that comes with the medicine. Regular blood testsA child with phenylketonuria will need regular blood tests to measure levels of phenylalanine in their blood and assess how well they're responding to treatment. Only a drop of blood is needed, and it can be collected at home and sent to the hospital by post. You may be able to have training so you can do your child's blood tests, or be able to test yourself if you have PKU. This will make testing more convenient. It's recommended that children who are:
Someone with PKU will usually need to have regular blood tests throughout their life. The genetic cause (mutation) responsible for PKU is passed on by the parents, who are usually carriers and do not have any symptoms of the condition themselves. The way this mutation is passed on is known as autosomal recessive inheritance. This means a baby needs to receive 2 copies of the mutated gene to develop the condition – 1 from their mother and 1 from their father. If the baby only receives 1 affected gene, they'll just be a carrier of PKU. If you're a carrier of the altered gene and you have a baby with a partner who's also a carrier, your baby has:
Many adults with PKU find they function best while on a low-protein diet. The current advice is for people with PKU to remain on a low-protein diet for life. Unlike in young children, there is not yet any evidence that high phenylalanine levels cause any permanent brain damage in adults with PKU. Some adults with PKU may have higher phenylalanine levels because they find it difficult to follow the low-protein diet or have returned to a normal diet. As a result, they may find they do not function as well. For example, they may lose concentration or have a slower reaction time. These adverse effects can usually be reversed by going back on to a strict diet to bring the phenylalanine levels down again. Anyone who returned to a normal diet should still be supported by their clinicians and have a regular follow-up to monitor their condition for any complications that might arise. For women with PKU, it's essential that they return to a strict diet if they're considering becoming pregnant, as high phenylalanine levels can harm an unborn child. Women with PKU must take particular care during pregnancy, as high levels of phenylalanine can damage their unborn baby. Provided that phenylalanine levels are strictly controlled during pregnancy, problems can be avoided and there's no reason why a woman with PKU should not be able to have a normal, healthy baby. It's recommended that all women with PKU plan their pregnancies carefully. You should aim to follow a strict low-protein diet and monitor your blood twice a week before becoming pregnant. It's best to try to conceive once phenylalanine levels are within the target range for pregnancy. During pregnancy, you'll be asked to provide blood samples 3 times a week and will be in frequent contact with a dietitian. As soon as your baby is born, phenylalanine control can be relaxed and there's no reason why you cannot breastfeed your baby. Contact your PKU doctor and dietitian as soon as possible if you become pregnant when your phenylalanine levels are not adequately controlled. If your phenylalanine levels can be brought under control within the first few weeks of your pregnancy, the risk of damage to your baby should be small. But your pregnancy will need to be monitored very carefully. Information about youIf you or your child has PKU, your clinical team will pass on information about you to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Find out more about the NCARDRS register
Page last reviewed: 03 December 2019 |
What is the priority guidance to TA client who has phenylketonuria PKU and is planning a pregnancy which of the following should the nurse include in the discussion?
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