Phenylketonuria Research Paper

ff exit 5 on the NJ turnpike, a few miles down the road resting on the banks of the Delaware River is located a small notable community by the name of Burlington City. Once the seat of power for Burlington County and a stop on the underground to freedom for the enslaved African, it possesses a rich and bountiful history.

According to research, PKU is “an autosomal recessive genetic disorder characterized by mental retardation due to a deficiency in phenylalanine hydroxylase, an enzyme necessary to metabolize the essential amino acid phenylalanine to tyrosine. Without phenylalanine hydroxylase, phenylalanine is converted to neurotoxic phenyl pyruvic acid” (Gonzalez, 2009). For those who have PKU, the phenyl pyruvic acid would become quite toxic and lead to damage within the brain causing mental retardation. PKU was first discovered in 1938 by a man named Asbjorn Fölling, and throughout the early 1960s phenyl pyruvic acid was found in urine using a reaction with ferric chloride. However, it was in 1958, that Dr. Guthrie transferred to the Buffalo Children’s Hospital and was able to develop a new approach to measure and monitor

People with Alzheimer disease also develop deposits of protein and fibre that prevent the cells from working properly. When this happens, the cells can't send the right signals to other parts of the brain. Over time, brain cells affected by Alzheimer also begin to shrink and denature.

China’s One-Child Policy has been a controversial topic since its implementation back in 1979. Forcing families to have only one child has caused major repercussions that have only been magnified with each generation. In the past thirty years, major unforeseen problems have arisen. The policy had appeared to be a viable solution to curb China’s massive population before it was put into effect, but now the problems with the policy clearly overshadow the benefits. When China faced the problem of a swelling population, rapidly approaching one billion (Doc A), the One-Child Policy appeared to be a good idea.

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.

Phenylketonuria, or PKU, is an autosomal recessive, heritable disease that decreases levels of the enzyme phenylalanine hydroxylase, which is responsible for the metabolism of the amino acid phenylalanine, resulting in an unhealthy buildup that can lead to brain damage, seizures, and intellectual disability. While not curable, PKU, if detected early on, can be treated to allow sufferers to lead full and healthy lives. The symptoms of PKU appear almost immediately after birth, requiring parents and hospitals to make the necessary preparations, including feeding infants with special formula. Lack of such care can result in

What is Krabbe disease? Krabbe disease, also known as globoid cell leukodystrophy, is a rare but deadly disease. It is caused by the inability to create enough of a substance called galactosylceramidase, which is needed to make myelin. This leads to a buildup of toxic substances in cells that produce the myelin sheath and to a progressive loss of myelin that covers many nerves. Myelin acts as a protective covering for cells and nerves and without it, cells and nerves in the brain can’t function properly.

Polycystic kidney disorder is a genetic disorder. If one parent has the gene and passes it on to their child, this is called Dominant inheritance and the child has 50% chance of getting the disease. If both parents have the gene and pass it on to their child, this is called Recessive inheritance and the child has 25% chance of getting the disease. There are three types of PKD. Autosomal Dominant PKD is the first form. This form is passed from parent to child by dominant inheritance. Symptoms usually begin between the ages of 30 or 40 and can be earlier than that. Autosomal Dominant PKD is the most common form of PKD, 90% of PKD are this form. Infantile or Autosomal Recessive PKD is another form. This is passed from parent to child by recessive inheritance.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

Many people affected by Klinefelter syndrome are at high risk of many different health issues, but if these risks can be reduced if signs are caught and treated early. High risk autoimmune disorders, which are disorders in which the immune cells attack the body, include rheumatoid arthritis, hypothyroidisms, lupus, and type 1 diabetes. High risk venous diseases include varicose veins, deep vein thrombosis, and pulmonary embolisms. Since affected males have such a high risk of these venous diseases, they should pay close attention to their weight, follow an adequate diet, avoid smoking, and exercise regularly. Tooth decay is a problem with Klinefelter-affected males since they usually have taurodontism, which is when teeth have shorter roots,

Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental

Mrs. Wright is the protagonist in the short, one act play titled, “Trifles”, which is written by Susan Glaspell. Miss Brill is the protagonist in the short story “Miss Brill” which is written by Katherine Mansfield. These two diverse women oddly enough, share some of the same qualities such as having miserable secluded lives and finding a weird sense of ease in mere petite animals to implement comfort to their lives; the two also have differences in being that although Mrs. Wright is miserable, she has someone in her life unlike Miss Brill. The back stories of Mrs. Wright and Miss Brill are unrelated. Both of these women have some specific token in their miserable lives that appears to shed partial joy in limelight for them.

The enzyme involved in phenylketonuria is phenylalanine hydroxylases. Their function is to break down phenylalanine’s, and if they aren’t able to break them down it will begin to build up in your body which can be dangerous. This dangerous buildup can happen if someone with PKU eats foods with high proteins such as the following: milk, cheese, nuts or meats.

hyperkalemia.9Another drug treatment for malignant hyperthermia is azumolene, which is a muscle relaxant that prevents calcium to release from sarcoplasmic reticulum.17 Since patients with malignant hyperthermia experience a rapid elevation of their body temperature, their body must be cooled; this can be done by supplying cooling products, such as cooling blankets, cold intravenous fluids, and fans.7 To treat acidosis, the condition where the patient’s pH level is below 7.2, sodium bicarbonate or Tris buffer is used to raise the pH level.7 Furthermore, hyperventilation with 100% oxygen is crucial to decrease the partial pressure of carbon

I gleaned from the lecture concerning, the theory of “Recapitulation” in Christ expresses that, “Christ “recapitulates” the history of Adam, except he succeeds at every point at which Adam failed. Thus Adam’s disobedience is matched by Christ, obedience.” The theory of Christus Victor is also known as the “Satisfaction Theory”, suggest that the death of Christ was to be regarded as a sacrifice as the Lamb for the believers. These two theories compare one another in that God was both Human and divine. Also, “the unity of the creative and redemptive action of God, which is always Trinitarian: The father does all things by the Word in the Holy. I agree that Christ is the new Adam, “salvation is understood essentially in terms of participation in and communion with the deified humanity of the incarnate, the New Adam, I totally agree with this theory, God wanted to communion with us and because of the first Adam sin, he had to become man so we could