Phenylketonuria Research Papers

This test is used to detect if the bacteria contains any deoxyribonuclease activity. Because no color change was observed from blue to clear my unknown bacteria displayed a negative result.

For the Urease test, I incoluated my Urea test tube with my unkown bacteria from a TSA plate using and inoculating loop. The Urea tube was then incubated at 37 degrees Celsius for 8 days to observe for a color change. The Urea tests for the ability of a bacteria grown in urea broth produces urease. This medium contains the pH indicator phenol red. If urease is produced the pH of the media will raise thus causing the phenol red to change from yellow to a pink color.

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.

Indiana’s newborn screening program, codified at Indiana Code Chapter 16-41-17, requires hospitals to take a blood sample from every infant born under their care. It is a public health measure meant to check the newborns for certain diseases or conditions. Blood is collected in five circles on a newborn screen card, otherwise known as a dried blood spot (“DBS”) sample, and then given to a lab to test. The Genomics and Newborn Screening Program of the Indiana State Department of Health (“ISDH”) perform the tests—they punch small holes out of the DBS sample, often not using all five circles. There are no explicit directions on what to do with the remaining DBS cards, but from 1991 to June 2013 retained and

These people with are born with a mutated copy of the PKD1 (85% of cases) or PKD2 (15% of cases) gene in each cell and this mutated gene is inherited from one of their affected parents in about 90% of the time. The other 10 percent of cases result from new mutations in people with no history of the disorder in their family. This is known as acquired polycystic kidney disease. The PKD1 gene is located on chromosome 16 and PKD2 gene is located on chromosome 4. Not only are there mutations in the DNA of these genes but there may also be large deletions that remove sometimes up to 10 genes.

The test tube was labeled with the bacteria identifying number. The cap on test tube was removed, and the lip of the test tube was flamed. Next, the Bunsen burner was used to sterilize the inoculating loop. Then, bacteria were picked up from the working plate with the loop and the agar was inoculated. The loop was then re-flamed. Finally, the plate was placed in the 37˚C incubator and left to sit for 48 hours and any changes in color were observed. A negative result appears green, and a positive result appears blue. This is because it tests for the organism’s ability to use citrate as its sole source of carbon, and if it does then it produces ammonia and ammonium hydroxide which make the medium basic, changing the green agar blue (Leboffe & Pierce,

Soon after the child is born, several drops of blood samples would be collected. Additionally, parents’ or legal guardians’ written consent is necessary prior to screening. The consent would include detailed information regarding the testing program, sample storing process, retention, and future research use. According to the bill, legal guardians and parents of a child, or after 18 years, the newborn child would have a chance to request the department not to use the samples for research purposes and/or destroy the samples. The bill would help to determine phenylketonuria, the hereditary and congenital diseases, including, but not limited to, Biotinidase deficiency and cystic fibrosis (AB-170, 2015). The early prevention process would help to determine the causes of intellectual disabilities or physical defects. Furthermore, the process

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

Oxidase Test: Using a sterilized loop inoculate a loopful of bacteria into the test square and

This requires the administration of a heel-prick test in the nursery home or within 7 days of birth. The blood sample will be screened for all disorders (phenylketonuria, congenital hypothyroidism, sickle cell disease and cystic fibrosis, Duchenne muscular dystrophy, and Krabbe). Adopting this option would provide an opportunity for earlier detection and treatment of the disease. However, there is a chance for false-positive results as well as the added costs. There is also the ethical dilemma of patient autonomy and free-will.

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

Low phenylalanine containing diet is the first treatment of PKU, and this is applied for all of PKU patients. It has been demonstrated that low phenylalanine concentration in daily meals can effectively prevent mental retardation in PKU patients, especially in newborns (Knox, 1960). The major point of this treatment is to offer PKU patients with very low phenylalanine diets, and all of protein-rich and aspartame containing foods and drinks should be avoided. Aspartame is an artificial sweetener that can be converted into phenylalanine following ingestion, so it must be avoided from the diet of PKU patients (Williams, Mamotte & Burnett, 2008). Since PKU develops very early after birth, this treatment is applied immediately after conformation of the disease in an infant. For older kids, the amount of daily ingested protein is calculated each day regarding how severe PKU of the patient. Although this method can

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

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

Half of each tube’s contents are poured into a new test tube each respectively after the tubes are incubated for 1 hour. One set of tubes is tested for: