Treatment

Although PKU is not preventable, its symptoms can often be treated successfully through the use of a carefully regimented diet with a restricted phenylala-nine content. Babies are given a special formula that contains very low phenylalanine levels; then they gradually progress to eating certain vegetables and other foods that are low in phenylalanine. Affected children must have their blood tested regularly to ensure the presence of the correct level of pheny-lalanine. Foods recommended for those affected by PKU contain small amounts of protein, such as fruits and vegetables, limited amounts of cereal and grain products, and special low-protein products.

High-protein foods should be avoided, including meat, fish, eggs, poultry, dairy products, nuts, peanut butter, legumes, and soy products. Artificial sugar products containing Nutrasweet also should be avoided. The food program used to treat those with PKU is quite expensive, typically costing up to $10,000 a year or more. Although health departments may pay for the formula in some states and mandated insurance coverage may cover the cost in other states, most insurance companies do not cover the cost of treatment for those with PKU because it is considered nutritional rather than medical therapy.

While phenylalanine-restricted diets have proven to be highly effective in preventing mental retardation, it is now recognized that there may still be subtle cognitive deficits. Usually the individual has a normal IQ, but the incidence of attention DEFICIT HYPERACTIVITY DISORDER (ADHD) and learning disabilities is higher compared to those children who do not have PKU.

Recent studies have found that children with PKU who stopped the diet in early childhood did not develop as rapidly as children who remained on the diet, and they also had more learning disabilities, behavioral problems, and other neurological problems. Thus, until research provides alternative treatments, everyone with PKU should remain on a restricted diet indefinitely in order to maintain a safe level of phenylalanine (believed to be in the range of two to six mg/dl).

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