Phenylketonuria Research Paper

“There is evidence that PME directly affects the development of the central nervous system (CNS) in both animals and humans” (Day, Goldschmidt & Thomas, 2006).

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

In people with PKU Phenylalanine’s most apparent and benifical side affect is itrs function as a necessary building block for protein; It may also help create chemicals that work to regulate appetite and mood.

Polycystic Kidney Disease (PKD) is a fairly common genetic disorder of the kidneys. It affects approximately 1in 750 people. There are 2 types, the autosomal dominant (ADPKD) and the autosomal recessive (ARPKD). Autosomal dominant (ADPKD) is far more common of the two. The disease presents with lots of cysts on the kidneys and can not be cured. Medication can manage the symptoms. The symptoms include urinary tract infections, high blood pressure and even renal failure as it progresses. Serial ultrasound scans are usually performed to monitor the cysts and to screen family members.

Polycystic kidney disorder is a genetic disorder. If one parent has the gene and passes it on to their child, this is called Dominant inheritance and the child has 50% chance of getting the disease. If both parents have the gene and pass it on to their child, this is called Recessive inheritance and the child has 25% chance of getting the disease. There are three types of PKD. Autosomal Dominant PKD is the first form. This form is passed from parent to child by dominant inheritance. Symptoms usually begin between the ages of 30 or 40 and can be earlier than that. Autosomal Dominant PKD is the most common form of PKD, 90% of PKD are this form. Infantile or Autosomal Recessive PKD is another form. This is passed from parent to child by recessive inheritance.

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

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

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

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

Mitochondrial dysfunction and oxidative stress have been consistently observed in brains of PD patients. There is increasing pharmacological and genetic evidence sustain a link between PD and mitochondrial respiratory chain dysfunction, particular a deficit in mitochondrial complex I (Franco-Iborra et al., 2015). Accidental exposure to 1-methyl-4-phenyl-1,2,3,4-tetrahydropyridine (MPTP), an mitochondrial complex I inhibitor, has been known to result in acute and irreversible syndrome that was almost indistinguishable from PD (Calne and Langston, 1983; Langston and Ballard, 1983). Later on, mitochondrial complex I inhibition has been identified in the brains of sporadic PD patients (Schapira et al., 1990). In addition, chronic systemic inhibition of mitochondrial complex I by pesticide rotenone has been found to link to sporadic PD (Betarbet et al., 2000). Interestingly, mitochondrial complex I deficiency has been found not only in the postmortem substantia nigra but also in cerebral cortex (Schapira et al., 1990), which is consistent to the cortical glucose hypometabolism observed in PD patients. Indeed, the pathology of PD has been found to involve several brain regions other than the SNc and many neurotransmitters other than dopamine (Lang and Obeso, 2004a, b). PD models using MPTP and rotenone have now been used extensively in PD research (Beal,

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,

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

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.

Potassium is crucial to heart function, important for normal digestive and muscular function. It is the primary positive ion (cation) found inside body cells that it is essential for normal cell function. The proper function of the body requires 8% electrolytes in the bones,90% in skin intracellular fluid and 2% in extracellular fluid. Buttarro, et. al., (2017) mentioned that the human body average potassium is about 50 mEq/kg and normal blood potassium level is 3.5 - 5.0 milliEquivalents/liter (mEq/L). The decrease in potassium level is known as Hypokalemia; it profoundly affects the nervous system and heart, and when extreme may lead to sever complication or death (Buttarro et. al., 2017). Hypokalemia is a possible life-threatening imbalance that in some cases are acquired through inducing drugs (iatrogenic), genetic, endocrine, vascular and renal disorders (Butarro et. al.,