With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives. Without treatment, PKU can damage the brain and nervous system, which can lead to learning disabilities. 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.
People with PKU must also avoid food products that contain aspartame, as it's converted into phenylalanine in the body. It's a legal requirement for any medicine that contains aspartame to state it on the patient information leaflet that comes with the medicine. A 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. 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. Regular blood tests are needed to monitor the level of phenylalanine in the blood. This special diet is essential during childhood to prevent damage to the brain while it is still growing. The diet should be continued throughout life to optimise school performance, concentration and the ability to think clearly.
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Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. People with very mild cases may not require treatment with a low-phenylalanine diet. Babies born to mothers who have PKU and uncontrolled phenylalanine levels women who no longer follow a low-phenylalanine diet have a significant risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth.
These infants may also have a low birth weight and grow more slowly than other children. Other characteristic medical problems include heart defects or other heart problems, an abnormally small head size microcephaly , and behavioral problems.
Women with PKU and uncontrolled phenylalanine levels also have an increased risk of pregnancy loss. The occurrence of PKU varies among ethnic groups and geographic regions worldwide. Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen.
Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively.
As a result, this amino acid can build up to toxic levels in the blood and other tissues.
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