Phenylketonuria

Alternative names:

PKU

Treatment:

Treatment includes a diet that is very low in, or free of, phenylalanine; particularly when the child is growing. Strict compliance to the diet is necessary to reduce or prevent mental retardation. This requires close supervision by a registered dietitian or physician, and cooperation of the parent(s) and child.

Phenylalanine occurs in significant amounts in milk, eggs, and other common foods. Nutrasweet (aspartame) also contains phenylalanine, and products containing aspartame should be avoided for 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.

Adult women who have PKU and who plan to become pregnant should also adhere to a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy.

Expectations (prognosis):

The outcome is expected to be very good if dietary treatment is followed closely beginning immediately after the child's birth. If treatment is started after 3 years (or if there is no treatment), brain damage is inevitable.

Complications:

Severe mental retardation occurs if the disorder is untreated.

Calling your health care provider:

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.