PKU

Early diagnosis is key to treating PKU, a rare genetic disorder that results in an amino acid imbalance in the body. According to research or other evidence, the following self-care steps may be helpful.

• Fight back with fish oil

  Take a daily supplement containing 500 mg for every 8.8 pounds of body weight to prevent deficiencies caused by the PKU diet

• Seek support from supplements

  Prevent vitamin and mineral deficiencies caused by the PKU diet by taking supplements that provide the daily value of L-tyrosine, vitamin K, vitamin B12, and selenium

• Discover branched-chain amino acids

  Under a healthcare provider’s supervision, improve mental functioning by adding amino acid supplements to each meal and at bedtime; take 150 mg per 2.2 pounds (1 kg) of body weight each of valine and isoleucine, and 200 mg per 2.2 pounds (1 kg) of body weight of leucine

• Monitor amino acids in your diet

  Work with your healthcare provider and a nutritionist to maintain a phenylalanine-restricted diet that is nutritionally adequate

• Pass up aspartame

  Help prevent increased phenylalanine intake by steering clear of soft drinks, candy, and other foods and drinks sweetened with aspartame (Nutrasweet)

About This Condition

Phenylketonuria (PKU) is a rare genetic disorder that results in excessive accumulation of the amino acid, phenylalanine, and reduced levels of the amino acid, L-tyrosine, in the blood.

If untreated, high levels of phenylalanine can cause severe mental retardation, behavioral disturbances, and other brain and nerve problems. Fortunately, newborn screening programs now identify most cases of PKU in the United States and other countries. Early diagnosis and treatment is the key to reducing or preventing PKU-related conditions. Gene therapy is currently being researched as a possible cure. Research is also being conducted on methods to decrease levels of phenylalanine in the blood through the use of certain enzymes and amino acids.

Symptoms

Infants with PKU may be lethargic, feed poorly, and have a “mousy” odor from their sweat and urine. Eczema, sensitivity to sunlight, and light skin are also characteristic of PKU. Symptoms of children with untreated PKU include significantly diminished mental capacity, hyperactivity, and seizures.

Healthy Lifestyle Tips

Access to PKU resource/support groups, and education of family members may help simplify the complex dietary restrictions and improve one’s ability to follow them.

PKU during pregnancy (maternal PKU) is of particular concern. Excessively high or low levels of phenylalanine may occur during pregnancy, both of which may adversely affect the fetus. Maternal PKU can lead to fetal malformations, including small head size (microcephaly), heart abnormalities, failure to grow properly in the uterus (called intrauterine growth retardation), and mental retardation. Adverse effects on the offspring can be reduced and by careful dietary control both prior to and during pregnancy. Consultation and follow-up visits with medical and nutritional specialists are necessary for effective monitoring and dietary guidance in people with PKU.

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