Benefit Of PKU Testing

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

This is particularly important given the recent increase in the numbers of children diagnosed with

Soon after the child is born, several drops of blood samples would be collected. Additionally, parents’ or legal guardians’ written consent is necessary prior to screening. The consent would include detailed information regarding the testing program, sample storing process, retention, and future research use. According to the bill, legal guardians and parents of a child, or after 18 years, the newborn child would have a chance to request the department not to use the samples for research purposes and/or destroy the samples. The bill would help to determine phenylketonuria, the hereditary and congenital diseases, including, but not limited to, Biotinidase deficiency and cystic fibrosis (AB-170, 2015). The early prevention process would help to determine the causes of intellectual disabilities or physical defects. Furthermore, the process

With this in mind, many people who suffer with PKU use many low protein, dairy free, fruits and vegetables products to maintain their health and even stated that “PKU isn't just a diet thing. It's a brain thing.” Since all 50 states and territories of the United States require the screening of PKU, it is normally tested right after the baby is born. By taking a few drops of blood from the heel of the baby, the sample will be sent to a laboratory to test the amount of phenylalanine in the sample. Since PKU is also known as a genetic disorder, many health care providers also suggested the idea of genetic testing so it can into detail about the mutations in the genes that will cause

J. J. is a 12-year-old, independent, type 1 diabetic; diagnosed at 5-years-old. Her experience of being diagnosed was a difficult and almost fatal one. It all started when J. J. got a bad ear infection and had an accident, which was extremely abnormal for her. The doctor put her on amoxicillin, and a week later she came down with a rash. J. J.’s mother brought her the doctor, and he thought it was mono. They did a mono test and the results came back negative, however, the doctor was sure it was mono. He told J. J.’s mother to stop giving her the amoxicillin and that the symptoms would subside. They stopped taking the antibiotic, however, J. J. symptoms got worse. She was frequently thirsty, using the restroom often, sleeping a lot, and would complain of stomach pain. J. J.’s mother said, “my ex and I would ask if the doctors were going to test her blood. None of the doctors did” (personal communication, October 26th, 2016). J. J. went to 4 different doctors before she was in some much pain that she couldn’t move and was throwing up; later that day, she was diagnosed in the Ellensburg’s Emergency Room. J. J.’s mother stated, “the ER doctor walk into the room and immediately said she diabetes, and needs to go to children’s now. The doctor said she could smell the ketones on J. J.’s breath.” (personal communication, October 26th 2016). Ketones are substances that the body creates, when it breaks down fat, instead of carbohydrates for energy. Ketones make the blood

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

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

Many of us have had the opportunity to observe infants and how they develop through time, whether it is our children, siblings, or just a family friend we can all agree it is extremely interesting to watch children grow. I am currently about 8 months pregnant and I feel it is very important for me to understand how my daughter-to-be will develop. It is important for parents especially to know how a child should grow and mature so they know if their children are on the right track or not. Without knowing how a child is supposed to develop one may never know if their child has a developmental disability or not. The best way to diagnose a developmental disability is the parents

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.

Approaches to the management of a child’s well-being have been influenced by our ever-changing society. In the past, the focus was on the examination for communicable or contagious diseases, but today a clinical care provider is mandated to appreciate the influence of social, economic, and demographic factors on a child’s development and a possible effect on his/her health (Burns et al, 2013). Although we have many assets that can help in assessing the biological function and well-being of pediatric patients, head to toe assessment with medical evaluation remain the most significant part of any health assessment (AAP, 2016). The initial focus of any healthcare providers assessment is the objective and subjective data of the patient. When the

Layla was chosen as a case study to increase my knowledge on the potential implications of obesity/being overweight, with T1D and whether or not having T1D puts patients more at risk of becoming overweight. Additionally, using Layla as a case study allows me to explore the evidence for other dietary recommendations in Paediatric T1D including carbohydrate counting (CC) which most patients within the BHPDS are now required to be using from diagnosis.

The exam may show stunted or failure to grow, intense low blood sugar, enlarged liver gout, inflammatory bowel disease,

There are many Children that have developmental and behavioral issues and can only be detected during the developmental physical assessment especially during school entrance when it is a requirement. Unfortunately, intervention coming at that time will be late intervention. Developmental assessment is a major part of the primary health care aimed at ensuring that proper developmental growth is occurring as well as being instrumental in aiding the health professionals to spot possible regression (Rippon, 2015). To improve timely recognition of children with developmental disability, the American Academy of Pediatrics (AAP) recommends that all infants and young children be screened for developmental delays (Noritz & Murphy, 2013). To emphasize

“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