PKU

= (PKU) = By:Jasmine Kindt, Matt DePanfilis, Annie Griffin

PKU is an autosomal recessive disease that occurs on chromosome 12. People who have PKU lack an amino acid Phenylalanine that helps to break down proteins. People with PKU do not have a specific enzyme, amino acids accumulate after one consumes protein and can cause many problems to arise. PKU is passed down through family members. In order to have the disease of PKU, a baby must get the gene from both parents. If a baby gets the gene from only one parent, he or she is a carrier of the PKU gene but does not have the disease. **What is the Pattern of Inheritance** PKU is autosomal recessive. PKU is an autosomal recessive disorder present from birth. This simply means that a affected individual must have recieved a mutant allele from both parents in order to have PKU.In the majority of most N.European populations there are four specific mutations. These are in one gene for the enzyme phenylalanine hydroxylase(PAH) which is found in liver. It is specifically used to convert phenylalanine to tyrosine. There are as much as 3 types of possible outcomes in a recessive genetic disease:
 * Causes of PKU:**

1. A person has 2 normal PAH genes = Does not have PKU 2. A person has 1 normal PAH gene and 1 abnormal PAH gene = Carries PKU but does not have PKU 3. A person has 2 abnormal PAH genes = Has PKU



About 1 in every 10,000 Caucasian babies winthin United States is born with PKU. PKU can happen to people of all ethnic groups around the entire world. It happens more often in people whose families come from Ireland and other parts of Northern Europe. But it is most common in people from Turkey and Native Americans. PKU is less common in people of African, Japanese or Ashkenazi Jewish backgrounds.About 1 in every 50 Caucasian person is a PKU carrier. There is around 1,000 babies born a year with PKU around the world as a total.
 * What other names do people use for phenylketonuria?**
 * Deficiency Disease, Phenylalanine Hydroxylase
 * Folling Disease
 * Folling's Disease
 * Phenylalanine Hydroxylase Deficiency Disease
 * PAH Deficiency
 * PKU
 * How many people have PKU?**

The presence of a chronic condition may influence one's emotional development. In addition there will be lifestyle adjustments in order to accommodate more frequent doctor visits. As well as dietary restrictions may be required which have the potential to impact day to day activities that happen in a daily life.
 * BEHAVIORAL/EDUCATIONAL CONCERNS:**

Mental Retardation
The Mayo Clinic reports that if PKU is undiagnosed it is recognizable by the onset of mental retardation in children born with the PKU disease. The major PHE levels that build up in the body cause brain injury, and as a result within a few months to one year after birth, children will begin to have mental development issues according to the experts of the National Health Service.

Seizures/Epilepsy
It has been found by the Mayo Clinic that specifically common side effect of PKU is seizures. They may manifest as minor tremors at first or even jerking movements of individual limbs to full-scale seizures that may start to take place. According to the BBC, these seizures can progress and develop into a life-long case of epilepsy unless you get treatment for PKU before it will be too late and seizures start to take place.

Fair Skin and Hair Coloring
PHE in children without PKU is transformed into melanin for the skin and hair coloring on the person. The Mayo Clinic notes that children born with PKU will show a fair hair and skin tone regardless of the appearance of their parents, since their bodies do not produce melanin they will more then likely have lighter white skin. For some PKU people there skin may be so light they produce little amount of heat within there body having them always remain cold and showing the appearance of paper white skin.

Musty Urine Odor
The BBC and the Mayo Clinic note that children born with PKU have a musty-smelling urine that is slightly darker yellow. This smell is caused by a buildup of PHE within the body. The Mayo Clinic notes that this smell can extend from the urine to include the breath and skin of the child to also become stinky no matter even if they use breathmints the smell is like a permint residue within thier body. As well as: -Hyperactivity -restlessness or irritability

No. PKU is a slowly progressive disease that does not cause acute symptoms. During the first months of life it is completely asymptomatic and can only be detected by population screening determinations. In its more severe forms, untreated PKU causes progressive brain damage that affects thoughts causing retardation but does not affect life sustaining structures. They have motor mannerisms that can carry them around to complete tasks but most attain walking. Respiratory functions are not usually affected when a person has PKU. Therefore, even severely mentally affected patients tend to reach adult ages and live for long ages. Because there is not a specific age the PKU people live until they live a long life like most people but with disadvatages to food and thought process. During intercurrent disease, or after __committing dietary transgressions__ patients on treatment will have major rises in their Phe levels. Some patients refer noticing a decrease in their concentration abilities or reaction time, but these acute peaks are usually not detected clinically but detected by the physical patient themselves. Patients that abandon treatment will suffer from neurological or psychological symptoms such as anxiety or depression, but not an acute and life threatening metabolic derangement as in other diseases.
 * Is PKU a life threatening disease?**

Treatment for PKU has focused on reducing circulating Phe levels in order to secondarily lower brain Phe and avoid neurological symptoms. For it to be effective, it should begin during the neonatal period. Beginning treatment any later will effect the behavior of the patient but there might be some irreversible neurological complications. Even after brain development is complete it is recommended to continue on the treatment, since many patients that abandon treatment suffer psychological symptoms like seizures or other endangering impacts. Treatment usually consists of a diet that limits natural protein intake in order to avoid Phe intake levels to rise. This diet needs to be supplemented with special protein as well as vitamin products without Phe to compensate the resultant nutritionally deficient diet which only consists of nutricinal food choices. Foods hign in Phe in are milk, eggs, and NutraSweet.
 * Is there a treatment for PKU?**

A minority of patients can be treated with the PAH cofactor, tetrahydrobiopterin (BH4), which enhances PAH residual activity facilitating the reduction of circulating Phe. More frequent doctor visits may be promitted and dietary restrictions that will impact you daily living habits because they will not be able to eat products like meat or pizza because of it being unhealthy and it will naturally rise PHe levels which can hurt the patient. PKU is not cureable, it can be treated if the baby is given a special diet that is low in phenylalanine. This diet should be started as soon as possible after the birth of the child, ideally within the first seven to 10 days of life (2) the child should immeditaly begin treatment.
 * Can PKU symptoms be prevented?**

At first, the baby is fed a special formula that contains protein but no phenylalanine. Breast milk or infant formula is used sparingly to supply only as much phenylalanine as the baby needs and can tolerate. Later, certain vegetables, fruits, some grain products examples like specific cereals and noodles and other low-phenylalanine foods are added to the diet. No regular milk, cheese, eggs, meat, fish and other high protein foods are ever allowed for the person to eat. Because protein is essential for normal growth and development, the child must continue to have one of the special formulas that is high in protein and essential nutrients, but contains little or no phenylalanine. Diet drinks and foods that contain the artificial sweetener aspartame (which contains phenylalanine and is sold as Nutrasweet or Equal) must be strictly avoided.

Children and adults with PKU require follow-up care at a medical center or clinic that specializes in this disorder. The diet for each person must be individualized, depending upon how much phenylalanine can be tolerated. Meaning that each PKU disease is the same and is treated the same but for different people there will be effect results not necessarly the same results will occur on each indivivual. All affected people need regular blood tests to measure phenylalanine levels. Testing for babies may be as frequent as once a week for the first year of life, and then once or twice a month throughout childhood.

Until the 1980s, health care providers believed that children with PKU could safely discontinue their special diet around age 6 when brain growth was completed. However, studies since then have found that discontinuance of the diet before age 8 can lead to a decrease in IQ, and discontinuance after age 12 may lead to learning disabilities and behavioral problems.Parents of children with PKU and affected adults should discuss their diet and treatment questions with health care professionals at a PKU clinic throught their entire life you should remain on the PKU diet because even at adult ages it will be possible to devolp brain damage. All states and U.S. territories screen for PKU for every baby that is born. Babies are tested before they are allowed to leave the hospital. The PKU test was the nation's first newborn screening test. Developed with the help of the March of Dimes, the test has been routinely administered since the 1960s, sparing thousands of children from mental retardation. The baby's heel is pricked, and a few drops of blood are taken. The same blood sample can be used to screen for a number of other inborn errors of body chemistry. The blood sample generally is sent to a regional medical laboratory to find out if it has more than a normal amount of phenylalanine. Findings are sent to the health care professional responsible for the baby's care. If results are abnormal, more blood and urine tests are done to determine whether the baby has PKU or if there is some other cause of high phenylalanine levels. This also takes place for other diseases that are detected.
 * Are all babies tested for PKU?**
 * How is the test done?**

Occasionally, a case of PKU can be missed when the test is performed before 24 hours of age. For this reason, some experts recommend that infants whose initial test was taken within the first 24 hours of life be tested again at 1-2 weeks of age 3.

//Intresting Fact:// //-//Norwegian doctor Asbjørn Følling discovered PKU in 1934.

This is a place to contact incase you want someone to test their newborn baby for (PKU). Hershey, PA 17033 ||  ||
 * === Penn State Hershey Medical Center === ||  ||
 * Address: || P. O. Box 850
 * Phone: || (717)-531-8006 ||  ||
 * Fax: || (717)-531-0869 ||  ||
 * **Distance:** || **20.92 miles (approx.)** ||

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