Phenylketonuria (PKU)

The majority of people diagnosed with PKU have survived because it is not a life threatening condition and if its not treated it only leads to mental retardation at its worst.

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

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,

Diagnostic exams for PKD are commonly kidney imaging studies, including ultrasounds, CT scans, and magnetic resonance imaging (NKUDIC). According to the NKUDIC, “diagnosis can also be made with a genetic test that detects mutations in the autosomal dominant genes.” Autosomal recessive PDK is diagnosed using ultrasound images of the fetus or newborn, revealing enlarged kidneys or kidneys with an abnormal appearance. It has also been found that higher serum uric acid levels are associated with Polycystic Kidney Disease, according to

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.

Baldwin and team then analyzed their data. The results of the data shows that after follow ups and years of dietary therapy, PA levels of the subjects were reduced to a normal range (2010). In conclusion, regular dietary review and following a proper Westminister diet are useful in producing a reduction in PA levels. This is important because it gives those who are suffering hope for a possible long term solution treatment for their disorder. Also, it gives other researchers, doctors, instructors, and lay people a platform to educate and spread awareness about this cause. Some critiques that should be noted is that, this research was done over a long period of time. Time can be a disadvantage because society and life is constantly changing. For instance, when subject x, the teenager, started this experiment, she could have been involved with sports and other extracurricular activities in high school. Unlike the rest of the subjects, her body was still changing. However, ten (plus) years later she likely is married, pregnant or with children, and settled down with her career. All of these factors are major life changes and a pace different from when she

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.

It is a cause for many life changing, painful symptoms and are a cause of mental illness. In fact, the most major symptom is the large risk for mental disabilities. The dictionary definition of an intellectual disability is: “Intellectual disability is a disability characterized by significant limitations in both intellectual functioning and unadaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18” ( Definition of Intellectual Disability, 2015). The definition illustrates exactly what PKU is known to cause. The central nervous system includes the brain and spinal cord, and the damage is caused by the increased phenylalanine in the bloodstream. “If the child is not treated for PKU during this time, he or she will begin to develop symptoms such as: intellectual disabilities or mental retardation, seizures, tremors or jerky hand and leg movements and hyperactivity stunted growth” (Healthline, 2015). This piece of information includes the known symptoms of PKU, and when the symptoms occur. PKU is a hard disorder to cope with, and it comes with a wide range of scary and life altering symptoms. If not treated quickly, these symptoms lead to severe mental

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

Phenylketonuria (PKU) is an inborn error of metabolism of the amino acid phenylalanine, which is inherited from the parents as an autosomal recessive condition. Classical PKU results from a mutation in the enzyme phenylalanine hydroxylase or in more rare occasions PKU can occur if the enzyme’s cofactor, tetrahydrobiopterin (BH4), is not being biosynthesised. The deficiency of phenylalanine hydroxylase prevents the conversion of phenylalanine to tyrosine, which is an essential precursor for catecholamines. Excess amounts of phenylalanine within the body may cause mental disabilities along with other symptoms.

In Conclusion, in this case study the researchers were given a case study which expressed a student named ‘Jane’ who has an autosomal recessive disorder called Phenylkentonuria (PKU). The researchers learned that PKU is a caused by a gene mutation on chromosome 12. It codes for an enzyme in the liver called phenylalanine hydroxylase. This gene does not process phenylalanine correctly therefore, to avoid a build up phenylalanine a specific diet that contains less phenylalanine is given to people with Phenylkentonuria (Mayo Clinic, 2014). Since Jane has PKU that means that both her parents passed on the mutated gene to her. Parents can have the mutated gene and still not have PKU which makes them a carrier. On the other hand, if a single parent

Phenylketonuria (PKU) is an error of the metabolism discovered in 1934 by Ivar Asbjørn Følling. Phenylketonuria leads to a decreased metabolism of the amino acid phenylalanine. Phenylketonuria is a genetic disorder inherited from the parents, and both parents must have this enzyme deficiency in order for the child to be affected. Mutations in the PAH gene result in PKU, this results in low levels of the enzyme phenylalanine hydroxylase. If low levels of phenylalanine hydroxylase are produced then there is a buildup of dietary phenylalanine, which are toxic and harmful if not broken down. A rise in phenylalanine can lead to many intellectual disabilities as well as other health problems. There are two main types, the basic one is PKU(which