If a baby is not tested and has undiagnosed PKU, he or she may show signs or symptoms at several months old. Some babies with PKU may seem more drowsy and listless than normal. They may have feeding problems. As they continue to take in protein and phenylalanine through their diets, they may have growth, mood, behavior, and thinking problems, as well as other problems. Symptoms can range from mild to severe based on how much phenylalanine is in the blood.
The symptoms of PKU can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis. If you adopt a child from another country, he or she may need to be screened for PKU and other genetic diseases. PKU is treated with a special diet. Newborn babies who test positive for PKU are placed on phenylalanine-free formula right away.
As babies start to eat solid food, their diet will need to be restricted. This is because phenylalanine is found in many foods with protein. A child with PKU should not eat milk, fish, cheese, nuts, beans, or meat. A child with PKU can eat many foods low in protein, such as vegetables, fruits, and some cereals. Your child may also need to take mineral and vitamin supplements to make up for nutrients missing from the diet.
Aspartame contains phenylalanine. You will need to read all food labels to make sure your child avoids foods and drinks that contain this sweetener. A baby born to a woman who has PKU that is not controlled with a special diet is at high risk for serious problems.
The developing baby in the uterus can be exposed to very high levels of phenylalanine. Complications at birth may include:. There is a problem with information submitted for this request. Subscribe for free and receive your in-depth guide to digestive health, plus the latest on health innovations and news. You can unsubscribe at any time. Error Email field is required.
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You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail. Your in-depth digestive health guide will be in your inbox shortly. You will also receive emails from Mayo Clinic on the latest health news, research, and care. To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers.
Their health is rarely affected, but they have one mutated gene recessive gene and one normal gene dominant gene for the condition. A defective gene genetic mutation causes PKU, which can be mild, moderate or severe. In a person with PKU, this defective gene causes a lack of or deficiency of the enzyme that's needed to process phenylalanine, an amino acid.
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. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body.
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.
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