Phenylketonuria Theory

All the symptoms that were described were based on the kidney functions, so more and further

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

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 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.

A sample of urine was taken from a patient with kidney disease was labeled as

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

A recent publication in the Journal of Pediatrics (Sara L. Toomey, Alon Peltz, and colleagues,

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

Newborn screenings are done to identify infants with PKU. Each state in the United States differs with their screening process, but most of the screenings consists of blood tests. A few drops of blood are collected from the baby’s heel 24 hours after the baby is born. The blood sample is sent to the laboratory to test for metabolic disorders such as PKU. If there is an indication of PKU further tests are conducted like urine tests and more blood tests.

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

Phenylketonuria is a disease that takes place in the blood where it blocks proteins. 1 in 15,000 babies or people get this rare disease. Some of the symptoms are skin rashes, seizures , and taking longer to crawl or walk. Phenylketonuria Is hard on the body to work on walking and crawling, When the body needs to walk it takes longer to do those things for the baby to develop.

Even though it has been proven to be safe, people think that aspartame causes side effects such as, seizures, breathing difficulties, depression, loss of taste, and types of cancer (Aspartame: By Far the Most Dangerous Substance Added to Most Foods Today). People think this because they have heard that Aspartame kills neurons in the brain, Aspartic Acid causes serious chronic neurological disorders such as Alzheimer's Disease, Asperger Syndrome, and Brain Tumors, they also think that too much Phenylalanine (which is in Aspartame) causes emotional disorders, such as depression (Aspartame: By Far the Most Dangerous Substance Added to Most Foods Today). None of those side effects are legitimate. Many health agencies, both government and private, in America or around the world have found that Aspartame, if taken in safe doses is completely safe. But that does not mean that aspartame is completely safe. People with the rare disorder phenylketonuria (PKU) can not have Phenylalanine, which is a ingredient in many foods and drinks with high amounts of protein, especially, Meat, Fish, Eggs, Nuts, Dairy and Aspartame because their bodies cannot digest it (Aspartame: By Far the Most Dangerous Substance Added to Most Foods Today) (List of Foods That Contain Phenylalanine). When people with this disorder get too much Phenylalanine in their blood, there are some serious side effects, including

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

Phenylketonuria (PKU) is a rare problem in which babies are born without their body’s ability to efficiently break down the amino acid known as phenylalanine. These infants are missing the enzyme phenylalanine hydroxylase. Babies are now screened after birth.