Consumer Information

Phenylketonuria In Children

WHAT YOU SHOULD KNOW:

Phenylketonuria (fen-il-ke-to-NU-re-ah) is also called PKU. This is an inherited condition where the body cannot break down certain foods properly. With PKU, there is an error with the enzyme that is needed to break down phenylalanine. This enzyme may be present only in small amounts or none at all. Phenylalanine may build up in the body and cause brain damage. Without treatment, signs and symptoms of PKU may appear within a few months. These can be mild or severe and may include problems with learning, speech, or behavior. Other symptoms include vomiting (throwing up), seizures (convulsions), rash, or a musty odor to the breath, hair, or urine.
A newborn screening test is usually done a day or two after your baby's birth. His blood is checked for PKU and other genetic disorders. Urine tests, computerized tomography (CT) scan, or magnetic resonance imaging (MRI) may also help diagnose PKU. A special diet is needed to help keep his phenylalanine levels low. Medicines and special formulas may also be given to control your child's symptoms and help with his nutrition. Many children who follow a strict PKU diet grow up to be normal, healthy adults. With treatment, such as medicines and proper diet, your child may grow normally and serious health problems may be prevented.

CARE AGREEMENT:

You have the right to help plan your child's care. To help with this plan, you must learn about your child's health condition and how it may be treated. You can then discuss treatment options with your child's caregivers. Work with them to decide what care may be used to treat your child.

RISKS:

Phenylketonuria may be hard for you and your child. He may have a hard time sticking to his special diet and frequent blood tests. Your child may not be able to eat and enjoy foods and drinks as other children do. Special formulas or products may also be expensive. If PKU is not treated, your child may have permanent brain damage. He may have trouble learning, speaking, paying attention, or doing simple things. Your child's health, quality of life, and ability to function may greatly change without treatment. Ask your caregiver if you are worried or have questions about your child's disorder, treatment, or care.

WHILE YOU ARE HERE:

Informed consent: You have the right to understand your child's health condition in words that you know. You should be told what tests, treatments, or procedures may be done to treat your child's condition. Your child's caregiver should also tell you about the risks and benefits of each treatment. You may be asked to sign a consent form that gives your child's caregivers permission to do certain tests, treatments, or procedures. If you are unable to give your consent, someone who has permission can sign this form for you. A consent form is a legal piece of paper that tells exactly what will be done to your child. Before giving your consent, make sure all your questions have been answered so that you understand what may happen to your child.

Emotional support: You may stay with your child for comfort and support. Your child may need to stay in the hospital for more than a day. Ask caregivers if another family member can stay with your child when you cannot be there. Bring in something from home that your child likes. Your child may like to have his favorite blanket, toy, or clothing with him.

Diet:

A caregiver, called a dietitian, may talk to you about your child's feeding and nutrition. Every child has a special diet that is different from the others. This may depend upon your child's phenylalanine levels, age, weight, and other factors. Your child's dietitian plans and adjusts the amount of protein that your child is allowed.
You may breastfeed your baby or give him ordinary milk. If your child is old enough, fruits, vegetables, or cereals may be given. Special formulas or products may be added to your child's foods or liquids. These may add extra calories, vitamins, and minerals that he needs. You may talk to your child's caregivers to learn more about his special diet.

IV: An IV is a tiny tube placed in your child's vein for giving medicine or liquids. This tube is capped or connected to tubing and liquid.

Medicines: Your child may have one or more of the following:

Anticonvulsant medicine: Anticonvulsants are given to control your child's seizures.
Anti-itching medicines: Caregivers may give your child these medicines to help keep his skin from itching. Anti-itching medicines may be given in an IV, as a shot, by mouth, or as a skin lotion.
Antinausea medicine: This medicine may be given to calm your child's stomach and control vomiting (throwing up).
Muscle relaxants: These medicines may help your child's muscles relax. When the muscles are relaxed, your child may move easier and have less pain.

Neurologic signs: These are also called neuro signs, neuro checks, or neuro status. A caregiver may check your child's eyes, memory, and how easily your child wakes up. The strength of your child's arms, hands, legs, and feet may also be checked. These signs may tell caregivers how your child's brain is working.

Tests: Your child may need one or more of the following tests:

Blood tests: Your child may need blood taken for tests. The blood may be taken from your child's arm, hand, finger, foot, heel, or IV. Blood tests can give caregivers more information about your child's health condition. Your child may need to have blood drawn more than once.
CT scan: This is also called a CAT scan. A special x-ray machine uses a computer to take pictures of your child's body. It may be used to look at your child's bones, muscles, brain, body organs, and blood vessels. Your child may be given dye by mouth or in an IV before the pictures are taken. The dye may help your child's caregiver see the pictures better. People who are allergic to iodine or shellfish (lobster, crab, or shrimp) may be allergic to some dyes. Tell the caregiver if your child is allergic to shellfish, or has other allergies or medical conditions.
Genetic tests: Genetic testing may be needed to check your child's genes. This test helps caregivers learn how your child's genes may affect him. This may also help your child's caregivers decide on a treatment plan.
Magnetic resonance imaging scan: This test is also called an MRI. During the MRI, pictures are taken of your child's head. An MRI may be used to look at the brain, muscles, joints, bones, or blood vessels. Your child will need to lie still during an MRI. Never enter the MRI room with an oxygen tank, watch, or any other metal objects. This can cause serious injury. Tell your child's caregiver if your child has any metal implants in his body.
Urine tests: A sample of your child's urine may be collected and sent to a lab for tests. These tests help diagnose PKU and other disorders your child may have.

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.

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