![]() 1 year or younger should have their blood tested once a week.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. Only a drop of blood is needed, and it can be collected at home and sent to the hospital by post. Regular blood testsĪ 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. If sapropterin is recommended for you, you’ll have regular blood tests to check how well it's working. get more control of phenylalanine levels than through diet aloneīut it’s uncertain how well sapropterin works in the long term.allow you to eat a less restricted diet.improve the symptoms of PKU and help protect the brain.reduce the level of phenylalanine in the body.an adult likely to respond to treatment (you’ll have a genetic test to find out).If you have hyperphenylalaninaemia, sapropterin may be recommended if you are: Sapropterin is a medicine that may be used with a low-protein diet to treat a mild form of PKU called hyperphenylalaninaemia. It's a legal requirement for any medicine that contains aspartame to state it on the patient information leaflet that comes with the medicine. There are also medicines that contain aspartame, such as some children's cold and flu remedies. sugar substitutes such as the artificial sweeteners often used in tea and coffeeĪll food products that contain aspartame or a related product should be clearly labelled.People with PKU must also avoid food products that contain aspartame, as it's converted into phenylalanine in the body. Phenylalanine levels are regularly monitored by collecting blood from a finger prick on to a special card and sending it to a laboratory.Ī dietitian will create a detailed dietary plan for your child that can be revised as your child grows and their needs change.Īs 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 brain function should be unaffected. If a high phenylalanine level is confirmed, a baby will immediately be started on a low-protein diet and amino acid supplements. Many of these are available on prescription. 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. 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. flour-based foods, like bread, pasta, cakes and biscuits.High protein foods should be completely avoided. The main treatment for PKU is a low-protein diet and controlled intake of many other foods, such as potatoes and cereals. musty smell to the breath, skin and urine.fairer skin, hair and eyes than siblings who do not have the condition (phenylalanine is involved in the body's production of melanin, the pigment responsible for skin and hair colour). ![]() behavioural difficulties such as frequent temper tantrums and episodes of self-harm.Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. PKU does not usually cause any symptoms if treatment is started early. ![]() ![]() With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives.Ībout 1 in 10,000 babies born in the UK has PKU. Treatment includes a special diet and regular blood tests. If PKU is confirmed, treatment will be given straight away to reduce the risk of serious complications. This involves pricking your baby's heel to collect drops of blood to test. Diagnosing PKUĪt around 5 days old, babies are offered newborn blood spot screening to test for PKU and many other conditions. People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. Any amino acids that are not needed are broken down further and removed from the body. These amino acids are then used to make our own proteins. Our bodies break down the protein in foods, such as meat and fish, into amino acids, which are the "building blocks" of protein. Phenylketonuria (PKU) is a rare but potentially serious inherited disorder. ![]()
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