Phenylketonuria

Learn More About fen-ul-ke-to-NU-re-uh

What is Phenylketonuria?

It is a rare disorder that is characterized by the inability for the body to use the essential amino acid phenylalanine. With this excess acid, it can build up and become toxic to the brain.

What Category of Genetic Disorders Does This Disorder Fit Into?

PKU is a mutation in the gene that is responsible for making the enzyme that breaks down phenylalanine on chromosome 12.

When Was This Disorder First Discovered and by Whom?

In 1934 Norwegian doctor Asbjorn Folling discovered Phenylketonuria.

The picture to the right is of Doctor Folling.

How Does This Disorder Have an Impact On an Individual's Life Expectancy and Body?

PKU doesn't affect the individual's life expectancy, but if left untreated, they can experience severe brain damage.

What Are the Symptoms For This Disorder?

OTHER SYMPTOMS INCLUDE EPILEPSY, BEHAVIORAL PROBLEMS, SKIN RASH(ECZEMA), MUSTY BODY ODOR, AND VOMITING

What Tests Are Performed to Determine if an Individual Has This Disease/Disorder?

Children are tested using a blood sample drawn from the heel of the foot usually at least 12-28 hours after birth.

How Can the Individual Inherit This Disorder?

Phenylketonuria is an autosomal recessive defect and is passed down from generation to generation. If a person has PKU they have two genetic defects for Phenylketonuria. When a person is a carrier it means they have one genetic defect for the disorder, if they are a carrier they do not have symptoms for PKU. If each parent is a carrier of Phenylketonuria then there is a 25% chance of having a child with the disorder.

The picture to the right shows how the genetic defect gets passed down from parent to offspring.

Is This Disorder More Likely to Occur in Certain Populations?

PKU is more common to babies born to the parents of Jewish, Turkish, Italian, Northern and Eastern European, and Chinese ancestry. About 1 out of every 15,000 babies in the U.S. get Phenylketonuria.

Is There Any Way to Prevent Phenylketonuria?

Currently, there are not any ways to prevent PKU, but there are treatments such as a strict diet plan. Avoid high protein foods such as meat, fish, poultry, eggs, cheese, milk, dried beans, and peas. Instead, measure amounts of starches, cereal, fruits, and vegetables.

What Support Groups Are Currently In Existence to Help Individuals With This Disorder?

The NPKUA (National PKU Alliance), has camps hosted by clinics and state organizations for families and children with Phenylketonuria. These camps are a great way to make friends and gather support within the community.

"The NPKUA's mission is to improve the lives of individuals associated with PKU and pursue a cure."- National PKU Alliance