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Phenylketonuria 6/26/2014

What is Phenylketonuria?

Phenylketonuria or PKU is a rare, inherited metabolic disorder that, if untreated, causes mental retardation. Approximately one of every 10,000 infants in the United States is born with PKU, which usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH). This enzyme deficiency leads to elevated levels of the amino acid phenylalanine in the bloodstream.

All infants in this country undergo blood testing for PKU. The current treatment for this disorder involves dietary modification. When a very strict diet is begun early and maintained, children with PKU can expect normal development and a normal lifespan. The diet generally excludes all high protein foods, such as meat, milk, eggs, and nuts, since all protein contains phenylalanine. Dietary noncompliance can result in a decline in mental and behavioral performance. Women with PKU must also maintain a strictly controlled diet before and during pregnancy to prevent fetal damage.

Children with PKU

Idaho children under the age of 18, who have PKU and have no creditable health insurance, may qualify for the Idaho Department of Health and Welfare’s Children’s Special Health Program (CSHP).

How can I learn more about PKU and the Children’s Special Health Program (CSHP)?

To find out more information, contact your local CSHP office. Online, visit the Idaho Department of Health and Welfare’s web site HERE.

By phone, you can call the 2-1-1 Idaho CareLine by dialing 2-1-1 or 1-800-926-2588 to get the contact information of your local CSHP office.

You can search for your local CSHP office contact information in the 2-1-1 Idaho CareLine online database.

Online Resources

National Center on Biotechnology Information:

March of Dimes: