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What Is the Treatment for Phenylketonuria?

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  • Written By: Dan Harkins
  • Edited By: Kaci Lane Hindman
  • Last Modified Date: 15 January 2018
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Just after many babies are born, they are tested for phenylketonuria. This genetic disorder keeps the bearer from breaking down an amino acid called phenylalanine. In high doses, this condition can cause major health woes such as brain damage, retardation, seizures and behavioral problems. Treatment for phenylketonuria, or PKU, starts with dietary restrictions that often last a lifetime. In more severe cases, these measures are combined with a medicinal approach.

Babies found to have phenylketonuria are immediately placed on a special formula lacking any pheylalanine. Sometimes a mother is permitted to breastfeed; other times it is recommended that formula feedings begin immediately. When the time comes for solid foods, these children are taught to avoid a long list of proteins that could potentially harm them if eaten regularly. Though some doctors believe some quantities of pheynlalanine can be tolerated after adulthood is reached, others recommend sticking to a lifelong vegan diet.

Treatment for phenylketonuria centers around a diverse ban on meats, including seafood as well as eggs. Foods like nuts, beans and peas are forbidden, as are dairy products, chocolate, and many types of noodles and breads. Many who undergo this wide-reaching ban on foods supplement their diets with prescription-strength dietary supplements and possibly some other medical means of processing phenylalanine.

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Many people seek relief from the PKU diet with medical treatment for phenylketonuria through a drug called sapropterin. Though not effective in all patients, others see phenylalanine levels drop with the medication, otherwise marketed as Kuvan. This can help some patients include other various types of foods in their diets.

Another lifelong need for those with PKU is regular testing of phenylalanine levels. During pregnancy, a strict PKU diet along with intense supplementation is the norm. As many as half of all mothers who haven't sought treatment for phenylketonuria give birth to children with lessened IQs due to it.

Growing accustomed to life with PKU doesn't mean a life without flavor, though. Some only need to reduce portions containing phenylalanine, but even those with outright dietary bans enjoy many foods widely sold and savored. People with this condition are free to enjoy most of the delights of the vegan lifestyle, except beans and breads with butter or eggs. Non-chocolate desserts without egg are on the menu, too. It is helpful to consult an illustrated PKU diet guide like the one maintained by the University of Washington's Cristine M. Trahms Program for Phenylketonuria.

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