Phenylketonuria (PAA)

What allows a human being to constantly face-up to the responsibilities of life? What makes a mother or father continue to clothe, feed, and pick up their child from school? What makes a person wake up every morning to go to a job he or she hates, come home, and begin the whole process the following morning? Is it "responsibility" that makes a person do what they have to do, or rather is it fearing the consequence? Truthfully, this would depend on the situation. Parents would most likely fulfill their responsibility towards their child or children because of love; but a person who hates his or her job probably continues to do it fearing the consequence of unemployment. In the end, one realizes that despite all the responsibilities a person

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

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.

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,

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

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).

“Most cases of PKU are detected shortly after birth by newborn screening, and treatment is started promptly. As a result, the severe signs and symptoms of classic PKU are rarely seen, “ according to U.S. National Library of Medicine. PKU is a rare disorder, that’s detected after birth from newborn screening, and treatment starts promptly, but if not treated promptly, it can lead to severe symptoms. It’s treatable through a diet, symptoms vary from mild to severe like: intellectual disabilities to brain damage. PKU is a treatable disease that involves a diet with low phenylalanine. Its an inherited disease that increases the levels of phenylalanine in the blood. There is a long-term outlook for patients with PKU when it's excellent. Many organizations

Another mutated gene present in ADEOA patients is the PSEN1 gene (part of the y-secretase complex), which is responsible for the production of presenelin 1, which is meant to cut other proteins into peptides. The y-secretase complex also relates to the amyloid precursor protein by cutting it into smaller peptides thus aiding in the production of beta amyloid, and eventually the creation of amyloid plaques. Mutations in the PSEN1 gene “the most common cause of early-onset Alzheimer disease, accounting for up to 70 percent of cases” (Genetic Home Reference). Another mutated gene is the PSEN2 gene, similar to the PSEN1 gene. “One mutation replaces the amino acid asparagine with the amino acid isoleucine at position 141 (written as Asn141Ile or N141I). The other mutation changes the amino acid methionine to the amino acid valine at position 239 (written as Met239Val or M239V).” (Genetic Home Reference). These mutations appear to affect the production of amyloid precursor proteins and aids in the

It is required for normal development of life. Huge amounts of this amino acid are harmful to those who were born with phenylketonuria (PKU). Hypothetical changes in neurotransmitter levels in the blood and brain could cause neurological symptoms. However, toxicity studies suggest that aspartame cannot unsympathetically affect neuronal function due to some biochemical effects of high doses of aspartame consumption. Like methanol, the regular diet will lead to taking in of significantly higher amounts of phenylalanine than the amounts produced from aspartame

Metabolism is a process in which chemicals and enzymes break down food in the digestive system to make energy. The food is converted into simple sugars, energy and amino acids with the help of the mitochondria. A body can use this energy right away or it can store the energy in tissues such as liver, muscles, and body fats. A metabolic disorder happens when something goes wrong with the metabolic process because of abnormal chemical reactions. The metabolic disorder causes some substances to be produced either too much or too little, resulting in unhealthy digestive conditions. Metabolic disorders can affect the breakdown of carbohydrates, lipids, or amino acids. Metabolic disorders can also happen if an enzyme or vitamin required to carry out a chemical reaction goes missing. One of the rarest, inherited metabolic disorders is Alkaptonuria. Alkaptonuria occurs when there is a build up of homogentisic acid (HGA) that causes the urine to turn black when exposed to air. The buildup of HGA gets deposited throughout the body and usually attaches to connective tissues and cartilages

In the United States, Phenylketonuria (PKU) affects about 1 in 10,000 to 15,000 newborn babies, making it a very uncommon genetic disorder (U.S National Library of Medicine, 2016). Phenylketonuria stems from an abundant buildup of an essential amino acid called phenylalanine that can become very dangerous when it reaches excessive levels (U.S.National Library of Medicine, 2016). The excessive buildup of phenylalanine is caused by an alteration in the gene which codes for the enzyme known as phenylalanine hydroxylase (PAH), which functions in breaking down the aforementioned essential amino acid phenylalanine (U.S National Library of Medicine, 2016). This genetic mutation is caused by an autosomal, recessive genetic mutation in chromosome 12 (Genetic Science Learning Center, 2016).

Fetal rat cerebral cortical neurons were treated with E (4 mg/ml) for 24 h and pregnant dams were treated with the “Binge” model as detailed above. Both of these regimens elevate Nrf2 expression as well as induce enhanced apoptotic death of neurons [5, 7]. To gain a better understanding of the E-induced GSH loss, we first assessed the levels of cysteine, which is one of the key substrates involved in de novo synthesis of GSH. Illustrated in figure 3, both in vivo maternal exposures and the in vitro PCNs treatment with E reduced Cys with a concomitant decrease in the GSH content. Cys was decreased in PCNs and fetal

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

According to the principal of utility I would write off the cost of the surgery. Paola states that, "actions are right in proportion to their tendency to promote happiness, wrong as they tend to produce the reverse of happiness" (Paola, Walker, & Nixon, 2010, p. 27). By providing the surgery it would provide happiness and pleasure to all involved. The patient would experience happiness and pleasure through the reduction of pain and relief that there was no financial burden to the family. I would enjoy the intrinsic pleasure of being able to assist another individual who might otherwise be in a state of constant suffering.

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