What is PKU?

PKU stands for phenylketonuria, a recessive hereditary disease caused by the body’s failure to oxidize an amino acid (phenylalanine) to tyrosine, because of a defective enzyme.

Because it is recessive, parents may carry the gene without knowing it, since they might not actually have PKU. However, two individuals who carry the gene have a 1 in 4 chance of having a child with PKU.

Because it is hereditary, it may not be detected until it has caused problems for the child. If it is not treated before the age of three, brain damage may occur, causing severe mental retardation. Indiana requires hospitals to draw blood from all newborn babies and send it to the James Whitcomb Riley Hospital for Children in Indianapolis, where it is tested for PKU and about 30 other inborn errors of metabolism.

Because it deals with the body’s ability to use an amino acid, it affects the child’s ability to eat any natural protein source. All natural proteins contain all amino acids, so phenylalanine cannot be avoided. Most foods contain some natural protein, including not only meats, fish, dairy, and eggs, but also all fruits, vegetables, and grains.

Because the phenylalanine (phe) is not properly metabolized by the body, it causes progressive, cumulative damage to brain cells. Untreated cases may result in severe mental retardation, extremely low IQ, impaired language ability, physical disability, and nutritional deficiencies.

How is PKU treated?

After a child is diagnosed with PKU, he or she is immediately placed on a low-protein diet. Instead of regular formula, a baby must drink a special formula which has phenylalanine removed. The person with PKU will continue to drink a similar formula (about 24 to 32 ounces per day) for the rest of his or her life. The formula is nearly nutritionally complete except for calories and the small amount of phenylalanine needed for growth.

The child or adult with PKU must measure all foods in order to restrict the amount of phenylalanine eaten. No meat, fish, eggs, nuts, or soybeans are allowed, and only limited amounts of dairy and vegetables. Most of an adult’s calories come from the formula and from low-protein vegetables, fruits, and special low-protein processed foods made from finely milled grains.

After the age of three, there is no danger of permanent brain damage, but if the diet is not followed, the child or adult may suffer significant developmental delays, learning disabilities, attention problems, short-term memory loss, stunted growth, and nutritional deficiencies. The formula and the low-protein foods are very expensive, but the state of Indiana only requires insurance coverage for the formula.

What can research accomplish?

Current research is focused on replacing the missing enzyme for metabolizing phenylalanine, genetically altering PKU patients so their liver will make the enzyme, or genetically altering natural protein sources so that they will not have as much phenylalanine.

A Word From Our Sponsors…

The purpose of this website is to bring awareness to PKU Indiana. Although the Indiana PKU & Allied Disorders Associations has been dissolved by the secretary of state, the website will remain for informational purposes. This would not be possible without the sponsors below.

Rooted Scales
Rooted Scales CBD Oil in Indianapolis

Rooted Scales is an Indianapolis based CBD, wellness and lifestyle company. Their main goal is to show Hoosiers the benefits of CBD oil. Although there is not any medical research on CBD and its benefits, many users report CBD products to help with pain, depression, anxiety, PTSD and much more. This message does not endorse CBD in anyway, so please consult with your doctor first.


Indy DJ Connect
Indy DJ Connect: DJ's in Indianapolis

The Indy DJ Connect is your local DJ “connection” for obtaining new entertainment. If you have an upcoming party and are considering hiring entertainment, look no further as Indy DJ Connect has a DJ for all styles of music. Our team has a combined experience over 100 years of DJ’ing in Indianapolis. No matter what genre, we can do anything rom Rock, Pop and Hip Hop, to Reggaeton, R&B, and Country. Check out our website for more information about our company.



Design Indy
Design Indy: Uncovering Design in Indianapolis

DesignIndy is an organization created to uncover the design process within our fine city. This includes things such as architecture design, building engineering, landscape design, computer design and much more. Visit their website for more information on meetups and events.