Genetic Testing: Phenylketonuria (PKU)

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

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.

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

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 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)

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

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

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.

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 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 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

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.