Analysis Of Phenylketonuria (PKU)

Screening for PKU is now done in every state for all newborn babies. The test, called the heel stick test, is done at about three days old, to get early detection. Early detection is the key when treating PKU. If at an early age the baby’s diet is changed to avoid phenylalanine, a baby who was once destined to become severely mental retarded, now can live their lives fully without any symptoms of the disease. A baby who has PKU must immediately be kept away from foods containing protein, because protein contains high levels of

Fifty years after the idea of gene therapy was first proposed, gene therapy has become a possible treatment for a couple different diseases. Before this treatment was approved, some serious unfavorable effects were found in clinical trials. However, these effects fueled more basic research in order to improve, in efficiency and safety. Gene therapy has been used for patients with blindness, neuromuscular disease, hemophilia, immunodeficiencies, and cancer.

In people with PKU Phenylalanine’s most apparent and benifical side affect is itrs function as a necessary building block for protein; It may also help create chemicals that work to regulate appetite and mood.

Gene therapy is a very controversial topic that has been discussed in the last five years and is being heavily studied to help cure cancer. Gene therapy is a technique aimed at treating genetic disorders by introducing the correct form of the defective gene into the patient’s genome (Dunlop et al., 2010).

With this in mind, many people who suffer with PKU use many low protein, dairy free, fruits and vegetables products to maintain their health and even stated that “PKU isn't just a diet thing. It's a brain thing.” Since all 50 states and territories of the United States require the screening of PKU, it is normally tested right after the baby is born. By taking a few drops of blood from the heel of the baby, the sample will be sent to a laboratory to test the amount of phenylalanine in the sample. Since PKU is also known as a genetic disorder, many health care providers also suggested the idea of genetic testing so it can into detail about the mutations in the genes that will cause

A Phenylketonuria (PKU) test is done on newborn babies to determine if they have the necessary enzyme needed to use Phenylalanine in their body. Phenylalanine is the amino acid needed for normal development and growth.

Soon after birth, all babies born in the United States will check for a specific disease. This is called newborn screening. All infants look healthy because they can see from just a baby emergency and screening. Finding these conditions soon after birth can prevent severe problems such as brain damage, organ damage and even death. For example, if the baby's body is capable of handling phenylalanine, make a test (PKU) for phenylketonuria. Phenylalanine is a result of brain damage found in some of the many protein-rich foods and sweeteners can be built on the blood and tissues of a baby with PKU. PKU and baby are put in a special case to avoid the diet initially. Babies are tested for hypothyroidism means that the body does not make enough thyroid hormone. Hypothyroidism baby can take hormonal drugs to prevent a slowdown in growth and brain damage that can occur if not treated hypothyroidism. Also, baby with sickle cell disease are at

This disorder affects one out of every 185,000 babies born worldwide. Also it is found in many countries throughout the world, although the condition is more common in certain ethnic groups. “About one out of every 380 babies from the old order mennonite population is affected by the condition. French- Canadian ancestry and Ashkenazi Jewish ancestry.” (babyfirsttest.org) “In Maple Syrup Urine Disorder the group of enzymes called branched-chain ketoacid dehydrogenase (BCKAD) complex is not working correctly. BCKAD is a group of four enzymes that work together to break down the amino acid leucine.”

Untreated PKU can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures. The defective gene does not produce the enzyme necessary to break down and rid the body of phenylalanine. The symptoms of phenylketonuria result from a buildup of (Global Genes, 2012) I eat differently. My friends understand PKU is very difficult, but-non PKU people think I am VERY different. I’ve had to adjust to other’s perceptions and learn to cope with what other people expect is the norm.”(Global Genes, 2012) this researcher would describe this disorder as A birth defect that causes an amino acid called phenylalanine to build up in the body. Phenylketonuria is an internal disorder. delayed development, failure to thrive, short stature, or slow growth

Carol’s line of questioning indicates that she is willing to learn and ready for the nurse to further educate her concerning PKU screening. Carol should be made aware that infants born with PKU are unable to metabolize the amino acid phenylalanine, “...a protein found in milk, dairy products,

Newborn screenings are done to identify infants with PKU. Each state in the United States differs with their screening process, but most of the screenings consists of blood tests. A few drops of blood are collected from the baby’s heel 24 hours after the baby is born. The blood sample is sent to the laboratory to test for metabolic disorders such as PKU. If there is an indication of PKU further tests are conducted like urine tests and more blood tests.

Signs and symptoms of Phenylketonuria vary depending upon the age of the person as well as progression of the disorder. Newborn babies usually show no signs or symptoms of phenylketonuria until they are about a few months old (Mitchell, 2013). The diagnostic test for phenylketonuria in newborns is a heel-prick test to obtain a sample of blood. If the test results indicate high levels of phenylalanine, further blood or urine tests may be requested to verify the diagnosis. Almost all cases of phenylketonuria are identified during the newborn screening tests (Mitchell, 2013). Untreated babies, children, and adults may show signs and symptoms of phenylketonuria.

The long-term outlook for people with PKU looks very good if they follow their diet closely. If for some reason the treatment is stopped or delayed, brain damage can occur. (MedlinePlus, 2017) Doctors in the past would tell their patients with PKU that as they got older, they could start laying off the diet. There has been discussion today about whether or not that is right. Most doctors go against that idea today. (NIH,

Phenylketonuria (PKU), is the most common inborn error of amino acid metabolism, results when a deficiency of the enzyme phenylalanine hydroxylase (PAH) impairs the body’s ability to metabolize the essential amino acid phenylalanine. This leads to accumulation of phenylalanine in body fluids. Elevated of phenylalanine levels negatively impact cognitive function, and individuals with classic phenylketonuria almost always have intellectual disability unless levels are controlled through dietary or pharmacologic treatment (Georgianne L Arnold, 2014).

Mutation PKD1 is located on chromosome 16 specifically 16p13.3 and mutation PKD2 is located on chromosome 4 in the vicinity of 4q21-23 (Grantham, 2008). In addition, the PKD1 is very large compared to PKD2, it encodes for a 14.1-kb mRNA transcript that is translated into a protein composed of 4302 amino acids (Igarashi, 2002), whereas PKD2 encodes a 5.3-kb mRNA transcript that is translated into a 968 amino acid protein (Igarashi, 2002). ADPKD follows a dominant inheritance. This means that if either the mother or father has ADPKD, the offspring will have a 50% chance of inheriting ADPKD (Grantham, 2008). If the gene for ADPKD is not passed on, the offspring will neither inherit the disease, nor be able to pass on the disease to future offspring (Grantham, 2008). Ways to develop ARPKD require each parent to be a carrier of at least one defective copy of the disease gene; in this case, there is a 25% chance of having the disease. If only one parent carries the defective gene, the offspring will not inherit the disease (Igarashi, 2002). In Mary’s case, the pedigree resembles an Autosomal Dominant PKD pattern, due to the high frequency of complications