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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

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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.

PKU, also known as Phenylketonuria, is a genetic disorder that builds up the amino acid phenylalanine in the human body. This genetic disorder is known to be an example of the norm of reaction. The norm of reaction defines itself as a phenotype range that a person with a certain genotype reveals due to the differing of a certain environmental condition. Since this genetic mutation targeted the gene that encrypts the enzyme phenylalanine hydroxylase, it shows that if a person has one and/or two copies of that certain gene, that person would have the ability to eat and metabolize foods with phenylalanine. But, if a person has two copies of the mutated gene, they wouldn’t be able to eat nor metabolize foods with phenylalanine because if a person with PKU were to ingest foods with phenylalanine, the amino acid will accumulate in their body and become highly toxic to the person and the PKU homozygotes will lead to an assortment of detrimental symptoms, which currently occurs in about 1 in 10,000 babies.

6. Based on the cell biology, what options do you have to treat the disorder?

The treatment involves a protein free diet. Fluids, sugars, and sometimes fats are given through an IV. Long term treatment requires a special diet that they need to follow. Also for infants their diet includes a formula with low levels of amino acids leucine, and valine. Must contain a low diet in these amino acids for life. It is very important to follow this diet to prevent nervous system damage. It also requires frequent blood test

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

The school year is getting underway and the young people will be either learning or reviewing their ABC’s and 123’s. Now, is also a good time for the rest of us to review the basics as well…..

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

Treatment can prevent mental disabilities and other health problems for an individual with phenylketonuria, but there is no cure for phenylketonuria. Phenylalanine is an essential amino acid that occurs as a constituent of many proteins and is normally converted to tyrosine in the body. Individuals who they have phenylketonuria must follow a diet that has low levels of phenylalanine in them. This diet should be started from birth. This diet should also be strictly followed. This diet will be watched by a registered dietitian or doctor. Any products containing aspartame should be avoided. TPKU infants have many different special formulas that should be taken. Older children and adults use a different formula that provides protein in the amounts

Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental

In general, it is reported that people treated for PKU displays good outcome. Patients that are treated people could display no noticeable signs of developmental, neurological and physical, problems. Many individuals diagnosed with PKU using the newborn screening and have been treated since birth and they were able to build a good family, high educational achievement, and successful

Phenylketonuria also known as PKU is an inherited metabolic disorder that presents itself soon after a baby is born. According to the US Department of Health and Human Services only one child out of 150,000 is diagnosed with phenylketonuria (2011). For a child to inherit this disorder both of parents have to carry the PKU gene even if they do not have the disease (Mayo, 2014). Even if a woman with PKU is pregnant it does not necessarily mean that their baby will also inherit the disease. Complications with the baby only arise if the mother does not follow the dietary restrictions set by this disease. These complications include small heads, low birth weight, and developmental issues (Mayo, 2014). If a child is diagnosed with this disease, their ability to break down amino acids

The treatment aim of PBC is to achieve symptomatic relief and to encourage lifequality free from pruritis and fatigue,once this target has been attained regular follow-up is to be adviced . the chronic treatment costs ,transplantation needs of the patients with PBC mean that this disease accounts for a ample proportion of clinical hepatology workload, as prognosis is improved by earlier diagnosis and therapy ,more focus is to be pointed on the symptomatic treatment. with more supporting evidence on UDCA and recent development over PBC, It has now become even more convenient for physicians treating this disease.

Since aspartame consists of phenylalanine and aspartic acid, it could be easily exposed to the brain. Fetal phenylalanine has the potential to reach levels that kills cells in tissue culture. Experimentally, it has been determined that infants are four times more sensitive to excitotoxins than adults. Plasticity of the brain is important in the learning process. Even when the baby is in the womb, the brain of the infant is being stimulated by sounds, touch, and even light causing changes in the brain's structure in important ways. All of this stimulation causes the pathways in the brain to change and develop. This process of molding the brain continues throughout life, but the majority of growth takes place within the first seven years of life. During these critical years, if unborn and young children are fed drinks or food containing aspartame, over-stimulation can occur. The overall consumption of aspartame by pregnant women and young children can be harmful to the function of the brain.