Phenylketonuria

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Phenylketonuria test

Phenylketonuria test

PKU

Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. However, sticking to the diet is difficult because phenylalanine products often have poor taste.

The diet must be strictly followed to prevent or reduce mental retardation. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health.

Phenylalanine occurs in significant amounts in milk, eggs and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided by children with this disorder.

A special infant formula called Lofenalac is made for infants with PKU. It can be used throughout life as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids.

Tetrahydrobiopterin (BH4) has been used in mild cases as an experimental treatment. Taking supplements to replace the long chain fatty acids missing from a standard phenylalanine-free diet may be helpful.

The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is started after 3 years or if the disorder remains untreated, brain damage will occur.

Severe mental retardation occurs if the disorder is untreated. ADHD (attention-deficit hyperactivity disorder) appears to be the most common problem seen in those who do not stick to a very low-phenylalanine diet.

Call your health care provider if your infant has not been tested for PKU. This is particularly important if anyone in your family has the disorder.

Review Date: 08/18/2006
Reviewed By: Benjamin W. Van Voorhees, MD, MPH, Assistant Professor of Medicine and Pediatrics, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.