In the 20th century, genetic testing was initiated to determine whether an individual had a genetic disorder or not. Newborns were tested for a condition known Phenylketonuria (PKU). PKU is a condition where by a buildup of an amino acid known as phenylalanine in a baby’s body leads to intellectual impairment and possible brain damage. This amino acid is built up when a baby lacks an enzyme that converts phenylalanine into another amino acid called tyrosine. The screening tool used is known as the Guthrie test whereby blood is collected from the heel of a new born and tested for the presence of PKU. If the PKU content is above 1-2mg/dl, then the baby has PKU. Early detection of this condition has helped to preserve the brain function of the child. Also, the child is …show more content…
Furthermore, his family members undergo genetic testing to determine if their genes were also mutated. This genetic tests helps to provide affected individuals with the opportunity of reducing their risks of developing different types of cancers caused by LS. Since, they are much aware of their risk status, they utilize early cancer screening tests and other risk reduction strategies. Public health function known as assurance is manifested here, such that individuals who tested positive to LS genetic test are linked to personal health services. Likewise, the public health goal of informing the public about health issues and prevention strategies is achieved. Future application of genetic testing could be seen in the improvement of health outcomes in mental health. Genetic testing could be used to determine the appropriate drug for any mental health condition, for example depression, specific to an individual. Public health goal of research for new insights and innovative solutions, in this case, innovative solutions to mental health treatment and management will be
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
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 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
“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
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
The document examines the Newborn Screening: Genetic Diseases: Blood Samples Collected Bill No. 170, introduced by Assembly Member Mike Gatto on January 22, 2015. The law requires to amend Section 125000 of, and to add Sections 125003, 125004, and 125005 to, the Health and Safety Code, relating to newborn screening. According to the bill, the State Department of Public Health is required to establish a program for the genetic disease testing and follow up services for newborn children. All newborn children statewide are subject to a screening, unless it violates their parents’ or legal guardians’ religious beliefs and practices.
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).
Phenylketonuria (PKU) occurs in 1 in 15,000 newborn babies just in the United States. All around the world, PKU affects about 1 in 20,000 newborns. PKU does not affect a person’s life expectancy no matter if they receive treatment or not. It is screened for in all newborns in all 50 states. (Boston Children’s Hospital, 2005-2017)
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
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. Thanks to discoveries made over the last century, newborns are screened for the disorder at birth, and thus treatment can start promptly if needed. As of now, there is no cure for PKU, only a restrictive diet to reduce symptoms.
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 has prevented millions of infants from experiencing the effects of intellectual disability and behavior abnormalities. Individuals with PKU can be successfully managed with monitoring of PKU levels and dietary modifications. The testing is cost effective and has high sensitivity and specificity. The estimated cost associated with the treatment of an individual with mental and intellectual disabilities can be millions of dollars. The population screening of metabolic disorders
The Investigating Phenylketonuria in Plasma samples from newborn and observing the Tyrosine levels The traditional phenylketonuria (PKU) is an example of inborn errors in metabolism, this is categorized by the lack of an enzyme called phenylalanine hydroxylase, and this enzyme usually converts phenylalanine to tyrosine, if this conversion doesn’t take place in causes the blood to build up with phenylalanine causing a problem in the urinary tracks. The genetic disorder causes mutilation of brain development, follow-on with mental retardation if a child is not treated. This disorder is an autosomal recessive this means two copies of an abnormal gene must be there for the disease to develop and this is found on the chromosome 12. (A S Lidksy.et
PAH is an enzyme needed to digest phenylalanine (National Human Genome Research Institute, n.d.) and synthesize proteins in humans (Williams, Mamotte, & Burnett, 2008) and without this enzyme serious problems may occur. Due to the deficiency of PAH, certain physical characteristics and actions are often seen with those who suffer from phenylketonuria. “Classical PKU” symptoms include paleness of the hair, skin and retina; underdeveloped tooth enamel; limited cognitive and functional abilities; perturbation; hostility and self-injury. (Mazur et al.,
For one to inherit PKU both parents have to pass it down through their genes, this is called autosomal recessive. In the US hospitals will test newborns for PKU by pricking their foot with a needle and drawing blood. They use the blood to see if they have this disorder.