How to Treat PKU

Phenylketonuria, referred to as PKU, is a rare genetic disorder marked by the absence or deficiency of an enzyme that processes the essential amino acid known as "phenylalanine." Left untreated, PKU results in severe impairment of mental development and cognitive function. However, a simple test administered shortly after birth can tell you whether or not your child has PKU.

Instructions

Difficulty: Challenging

1. Test your infant for PKU within two to three days of the child's birth. Doctors administer a "heel test" in which a blood sample is taken from the baby's heel. The blood sample is screened for PKU as well as other genetic metabolic disorders. Babies aged at least six weeks are tested for PKU via urine sample.
2. Treat PKU in infants by feeding the baby a special formula that delivers all the essential nutrients but limits the presence of phenylalanine. Regular baby formula as well as natural breast milk both contain significant amounts of phenylalanine and must be avoided.
3. Know that the consumption of a specialized low-phenylalanine formula will continue well into childhood and adolescence. A qualified dietitian or doctor will give you specific directions, but, in general, several glasses of the formula will be consumed by the child daily. It is a different formula from the one fed to infants, but has the same effect: limiting phenylalanine intake while providing essential nutrients.
4. Treat PKU through adolescence and into adulthood by strictly following a special PKU diet that limits phenylalanine. High-protein foods are rich in phenylalanine and must be avoided. These include meats, beans, dairy products, eggs and nuts. Aspartame also releases phenylalanine when the body digests it, so any foods containing artificial sweeteners must also be avoided.
5. Have a doctor or qualified dietitian lay out a daily plan that will keep phenylalanine intake limited to acceptable levels. Adults with PKU are usually O.K. if they consume no more than 400 to 500 mg of phenylalanine per day. A "points system" that tracks phenylalanine intake must be closely followed.
6. Stick to the PKU diet for life. While doctors used to tell parents that the special PKU diet needed to be followed only through adolescence, doctors today strongly recommend the diet be followed at all times.

Tips & Warnings

• Dietary restrictions are the primary means by which physicians treat PKU. While gene therapy may provide alternative therapies in the future, they are not currently developed enough to use on human patients.
• Early detection and a strictly followed regimen of treatment are necessary in order to avoid the serious complications that can result from PKU. Make sure your infant is screened and, if your baby has PKU, be sure to follow the advice of your doctor to the letter.

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