PKU By Taylor Brady If this child eats any protein she risks severe brain damage. Find out why..

What is PKU? PKU is an inherited disorder that is an error of metabolism that increases the levels of a substance in the blood called phenylalanine hydroxylase. Phenylalanine is an important amino acid and the body needs it for health; you get it from food. It is a building block for proteins in the body. Alt. Names: Deficiency Disease Phenylalanine Hydroxylase Folling Disease Folling’s Disease PAH Deficiency Phenylketonuria Child with untreated PKU

Symptoms/Effects Seizures Delayed development in children Behavior problems Psychiatric disorders Untreated disease can cause musty or mouse like odor as a side effect. Tend to have lighter skin and hair. Eczema This disease is not fatal and most children end up having an average lifespan.

What Causes PKU? PKU is an autosomal recessive disease. To have the disease, you must inherit the gene from each parent. If you inherit the gene from only one parent, you’re a carrier of PKU, but don’t have the disease. If you were to have children with a person who has PKU, there is a chance that your child will have PKU also. At birth, babies with the disease don’t have any signs of PKU because the mothers’ body filters out the phenylalanine for the unborn baby from birth. The symptoms noticeable after the baby starts consuming protein.

Who is Most Likely to Get PKU ? Native Americans and Whites tend to have a higher chance in inheriting the PKU disease. Hispanics, Asians and Blacks have a lower chance of inheriting PKU. In the U.S., PKU occurs in 1 in 10,000 to 15,000 newborns. Approximately 1 in 10,000 or 0.01% or 27,200 people in USA have PKU.

Treatment The treatment for PKU usually consists of reducing the amount of protein in the persons diet. Prescribed medicine can help reduce phenylalanine in the blood when taken with the PKU diet. Women who are pregnant with PKU must have an acceptable phenylalanine levels and that they are in treatment range or else the baby may have birth defects. All newborns in the U.S. are checked for PKU with a heelstick. Some food that PKU sufferers have to limit.

A Story About PKU Lauren is 13 and lives in Shreveport, LA. Her parents did not know she had PKU until 19 days after birth. When she was diagnosed, her family was “freaked out” and “scared”; her pediatrician had no other PKU babies under his care and immediately referred the family to a PKU clinic at Tulane. There, the clinic staff had a PKU workshop, explained the disease, and provided formula and guidelines for diet. According to Lauren’s family, the dietitian at the clinic “put the fear of God” into the family about the importance of sticking to diet. As a small child, Lauren had blood tests every week to ensure blood Phe levels were within normal/healthy range. Lauren’s mother subscribes to PKU News for low-Phe recipes and information on how to manage the Phe-restricted diet. She also purchases several products from Cambrooke. Lauren has a non-PKU sibling, so the family is used to making two separate meals for Lauren and the rest of the family. Lauren knows the importance of managing her diet and today has no desire to eat foods that are “off-limits” to her. Last fall, her doctor informed her family about KUVAN, and indicated that Lauren would be a good candidate for the drug. During the first week of treatment with KUVAN, Lauren’s blood Phe levels dropped substantially. Now Lauren has something in addition to her diet to help keep her Phe levels low. Her family is excited that KUVAN is now on the market, and that it will help her and many others keep blood Phe levels under control as they grow older. And they were able to find insurance support with the help of BioMarin, the company that makes KUVAN. Lauren is a very active teenager: she sings in the church choir, she’s on the basketball and tennis teams at school, is secretary of her student council, and is in the National Junior Honor Society. She also loves to swim and spend time with her friends. Lauren recently did her science project on her PKU and how KUVAN helps her keep her Phe levels low. Lauren’s project displayed a chart of her blood Phe levels while following her Phe-restricted diet, and depicted how KUVAN lowered her blood Phe levels even more than before. Best of all, she won first place at her school’s science fair and came in third in regionals!

Interesting facts A Norwegian doctor named Asbjørn Følling discovered PKU in There is no cure for PKU, just treatment. The author, Pearl Buck, had a child who suffered from phenylketonuria. She wrote a book titled "The Child Who Never Grew" about her daughter. Here is an interesting video about PKU and everyday life. ( JVujhHxPQ&feature=player_embedded #) JVujhHxPQ&feature=player_embedded #

Help Support PKU! You can help support PKU by going to the following websites: PKU/support-group PKU/support-group kristijan.blogspot.com/2010/11/what-is-pku.html kristijan.blogspot.com/2010/11/what-is-pku.html Get involved!

Works Cited Ron Jonk-. "Phenylalanine." University of Maryland Medical Center | Home. Web. 25 Jan "Phenylketonuria." Health but Health. Web. 26 Jan "Phenylketonuria (PKU) Facts." American Indian Health Central. Web. 25 Jan "Phenylketonuria (PKU) Signs, Symptoms, Causes, and Prognosis on MedicineNet.com." Web. 25 Jan "PKU Facts and Information from PKU.com." PKU – Phenylketonuria – Join the PKU.com Community. Web. 25 Jan