Genetic Testing: Phenylketonuria (PKU)

I am agreed with this statement. Generally genetic testing is to settle on medical choices is smart thought. Fundamentally Genetic testing is a method for figuring out whether you are conveying a genetic change which can possibly bring about a medical condition. The testing identifies changes in the genes, chromosomes and proteins that could result in a genetic condition. It is normally used to survey the danger of adding to an acquired disorder and the vicinity of variations from the norm. The test results can be utilized to focus the possibilities of an individual building up an acquired disorder and the danger of a parent going on a disorder to their child.

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

Genetic testing has become a highly controversial issue among both the general population and the scientific community. It is a process that exposes a person’s entire genome sequence, allowing it to be read and evaluated to identify potential risks for genetic diseases or diseases that could be passed onto offspring (Holt Productions, 2012). With thousands of genetic tests already being used, and more being established, it seems logical to put this growing technology to use. Some agree that it is a person’s right to know and understand his or her genetic makeup. However, others argue that, despite the benefits of genetic testing, caution should be used to carefully inspect the risks associated with this new technology.

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.

What tests are performed on all newborns in the US? 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

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

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.

PKU stands for phenylketonuria and is an amino acid disorder. PKU is defined as an inborn error of metabolism. Specifically, it characterized by the bodies inability to covert phenylalanine to tyrosine. Moreover, PKU occurs due to a phenylalanine hydroxylase deficiency. An infant develops PKU by inheriting it from their parents. Also, it is referred to as an autosomal recessive trait. Moreover, the infants are missing an phenylalanine hydroxylase enzyme. The method that is used to complete the screening is obtaining a blood sample, and then measuring the amount of Phe and Tyr. Also, genetic testing can be done by obtaining a blood sample. The complications that may arise in infants diagnosed with PKU is that the levels of phenylalanine and

  Introduction: In the United States alone, a genetic disorder known as Phenylketonuria (PKU) occurs in every 1 in 10,000 newborns, and has the capacity to cause severe mental deceleration. The causative agent of PKU is a single mutation in the PAH gene, which triggers the build-up of the amino acid phenylalanine.

A major challenge to genetic testing is the possible psychological impact a positive result can have for a patient. A patient may feel depression, or anxiety about the result (Garg, & Roth, 2015). It is important to ensure patient understand the meaning of a positive result and the potential

What is PKU? Well PKU stands for "phenylketonuria". It's a type of amino acid disorder. People with this disorder have trouble breaking down an amino acid named phenylalanine from the food they consume. This type of disorder is a group of rare inherited conditions. They are caused by enzymes that do not function correctly. PKU is always tested right after birth in the United States. It is important to find this disease early as it can cause severe brain damage. It is usually done in the first few days after birth and as early as 24 hours after birth. It may be repeated within the first week or two after birth. If tested positive, the damage caused by PKU may begin weeks after the baby has consumed formula or breast milk. Babies with this disease

“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

Genetic Testing carries a particular set of ethical, legal, or social implications, depending on the reasoning behind the testing. For example is the test for medical purposes, diagnostic, or predictive with a treatment? Or is the testing done for personal decision-making reasons? That is, predictive without a treatment, carrier, or prenatal? In any circumstance, privacy and confidentiality are critical because the genetic results are directly related to an individual’s identity. Not only is confidentiality an issue for health care, but to prevent genetic discrimination in insurance coverage and employment, as well. Information from a genetic test can affect an entire family. If the disorder is either genetically dominant or carried by an individual,

Genetic counseling is a new field emerging from an intersection between genetics, medicine, and psychology. As with most counseling, genetic counseling is a process of communication intended to help individuals and their families. However, for genetic counselors, they must also be able to comprehend medical information, including the management for various disorders. These individuals must also have an in-depth understanding of how heredity contributes to the risk and occurrence of disorders. They must be able to help individuals choose and follow the most appropriate course of actions based on their risk and occurrence. Specifically, genetic counseling works with human problems associated with the risk of occurrence of a disorder in a family. At this point, despite its emphasis on psychological principles, genetic counseling is most often done by medical geneticists or genetic counselors. Medical geneticists are physicians who have specialized in genetic disorders. Genetic counselors have academic backgrounds in genetics but also have training in counseling practices. It is also enviable that psychologists will become more involved in the process of genetic counseling. Roles for psychologists have been laid out as providing direct counseling services to clients, counseling with teams of counselors, helping train genetic counselors in psychological methodology and researching all aspects of psychology present in genetic counseling.

The benefit of PKU testing outweighs the potential risk. PKU can have devastating effects if not caught early. It is vital that treatment is initiated within the first 72 hours of life. PKU can be effectively managed if caught in time. The implementation of PKU testing