The Details Of Phenylketonuria And Huntington 's Disease

Just as most bioethicists and medical professionals agree that genetic testing for curable or preventable diseases is beneficial to patients, they also agree that genetic testing for incurable and untreatable diseases, such as Alzheimer's, is useless (Hubbard & Wald, 1999; Ridley, 1999). Although a negative test may afford a person the reassurance that he or she will not develop the disease, a positive test could be a death sentence. For example, since 1986 people who are at risk for Huntington's disease have had the option of being tested for the mutation on chromosome 4 that is linked to the disease (Ridley, 1999). In Genome, Nancy Wexler, a woman who set out to identify the Huntington's gene in the late 1970s, relates the story of a woman who asked doctors whether or not she had Huntington's disease (Ridley, 1999). Although the doctors found that the woman was showing subtle signs of the disease, she could not detect these signs herself. The doctors, rather than telling the woman that she had the disease, let her believe that she was well and did not have Huntington's disease. After the woman left the doctors' office, the woman's friend came into the office and asked the doctors what they had said to the woman, because earlier the woman had told her friend that she

Define Phenylketonuria. This is a rare inherited condition where the infant is born without the capability to properly break down phenylalanine. Also known as PKU. This allows the amino acid (phenylalanine) to build up in the infant’s body. Which means that a diet high in protein can lead to multiple serious health problems because of the dangerous levels that can build up from the incapability of breaking down phenylalanine. For someone diagnosed with PKU, it is a lifelong lifestyle change to follow a diet that limits the intake of phenylalanine which found mostly in proteins.

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.

Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease.

The gene for Huntington’s disease is fatal, and if passed down, the offspring will develop the disease at some point in their life ("Genes and Human Disease"). This means that if one parent is affected, which in this case happens to be Alice and Nancy’s mother, there is a 50% chance that each of them will acquire the fatal gene. Alice also learns that her mother’s father and her three uncles passed away due to Huntington’s. This heritable nature of Huntington’s causes many ethical issues for Alice, which will be discussed next.

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

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,

In the reading Should Some Lives Be Prevented? Glannon claims that preventing the lives of people who have severe early-onset disorders, like Lesch-Nyhan, is morally justified on the grounds of nonmalificence and justice. He advocates for pre-natal testing with a particular emphasis on embryonic testing. He believes that experiencing severe pain and suffering as the result of a severe disease makes life not worth living. He also claims that severely disabling diseases takes away from people the opportunity to achieve a decent minimum level of lifetime well being. He concludes by saying that while there is no moral requirement to prevent existence to those individuals who develop late-onset diseases, like Huntington’s Disease, there is also

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).

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.

Phenylketonuria is also know as PKU. It is a rare inherited disease where the progression of phenylalanine builds up inside the human body. Phenylalanine is a natural substance that is a building block of protein. People with PKU can not break up amino acid phenylalanine, which can lead to brain damage due to the phenylalanine building up into the blood and

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

Phenylketonuria also known as PKU is an inherited metabolic disorder that presents itself soon after a baby is born. According to the US Department of Health and Human Services only one child out of 150,000 is diagnosed with phenylketonuria (2011). For a child to inherit this disorder both of parents have to carry the PKU gene even if they do not have the disease (Mayo, 2014). Even if a woman with PKU is pregnant it does not necessarily mean that their baby will also inherit the disease. Complications with the baby only arise if the mother does not follow the dietary restrictions set by this disease. These complications include small heads, low birth weight, and developmental issues (Mayo, 2014). If a child is diagnosed with this disease, their ability to break down amino acids