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Phenylketonuria in Children
is a condition that prevents your child's body from breaking down phenylalanine. Phenylalanine is a substance the body uses to make other proteins that are needed for normal growth. Phenylalanine is found in many foods, such as meat, poultry, fish, eggs, milk, cheese, beans, nuts, and seeds. When phenylalanine is not broken down properly, it builds up in the body. This can cause brain damage and lead to serious growth and learning problems.
Call your local emergency number (911 in the US) if:
- Your child has a seizure.
Call your child's pediatrician if:
- Your child cannot eat or drink.
- Your child is vomiting everything he or she eats or drinks.
- Your child becomes more irritable and fussy than usual.
- You have problems feeding your child.
- You have questions or concerns about your child's condition or care.
Signs and symptoms of PKU:
A child with PKU may look normal and completely healthy for the first few months of life. Signs and symptoms may appear between 3 to 6 months of age. Your child may be less active and develop more slowly than other children. He or she may lose interest in the things around him or her. Your child may also have any of the following:
- Learning, speech, or behavior problems
- More irritable, fussy, or restless than normal
- Musty odor of his or her breath, hair, skin, or urine
- Light or pale skin
- Short length or small head
- Skin may be dry or have rashes
- Vomiting, muscle stiffness, or seizures
- A special diet is needed to keep the amount of phenylalanine in your child's body low. It is started as early as the first few days of life or a few weeks after birth. Your baby will need to drink formulas that have little or no phenylalanine. These formulas have the right amino acids, calories, vitamins, and minerals your child needs. Ask your child's healthcare provider for more information about these formulas.
- Your child will need to eat foods low in phenylalanine for the rest of his or her life. Phenylalanine is found mostly in foods that contain protein. The amount of protein your child can have depends on your child's phenylalanine levels, age, weight, and other factors. Your child's dietitian will plan and adjust the amount of protein your child is allowed to eat.
Follow up with your child's pediatrician as directed:
Your child will need regular blood tests to check his or her phenylalanine levels. Write down your questions so you remember to ask them during your visits.
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The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.
Learn more about Phenylketonuria in Children (Ambulatory Care)
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