Phenylketonuria Research Paper

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 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.

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.

When the protein is diseased, that causes people with Cystic Fibrosis to have digestive problems. The

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

This deprivation of essential nutrients from certain foods can have harmful effects on the body.

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

The HGPRT deficiency results in an accumulation of uric acid in all body fluids. The decreased utilization of purines and increased synthesis combination produces high levels of uric acid buildup . As a result, hyperuricosuria and hyperuricemia occur which are associated with kidney problems

Md", 2016).. An example of consuming too much protein, as in animal protein, it could cause

Phenylketonuria (PKU) occurs in 1 in 15,000 newborn babies just in the United States. All around the world, PKU affects about 1 in 20,000 newborns. PKU does not affect a person’s life expectancy no matter if they receive treatment or not. It is screened for in all newborns in all 50 states. (Boston Children’s Hospital, 2005-2017)

Phenylketonuria is an autosomal recessive disorder caused by deficiency of the enzyme phenylalanine hydroxylase, which normally converts phenylalanine to tyrosine. Serum phenylalanine concentrations

PKU stands for phenylketonuria and is an amino acid disorder. PKU is defined as an inborn error of metabolism. Specifically, it characterized by the bodies inability to covert phenylalanine to tyrosine. Moreover, PKU occurs due to a phenylalanine hydroxylase deficiency. An infant develops PKU by inheriting it from their parents. Also, it is referred to as an autosomal recessive trait. Moreover, the infants are missing an phenylalanine hydroxylase enzyme. The method that is used to complete the screening is obtaining a blood sample, and then measuring the amount of Phe and Tyr. Also, genetic testing can be done by obtaining a blood sample. The complications that may arise in infants diagnosed with PKU is that the levels of phenylalanine and

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

PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of the genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies.

If a cell was to lose its ability to produce amino acids, then it can’t make protein which our body needs to carry out our everyday functions. Therefore, without amino acids producing proteins, we as humans can become malnourished. For instances, when a woman becomes pregnant her baby depends on her to be strong and to eat healthy food. Since our bodies are made up of cells that produce amino acids and the amino acids produces protein through our body, if the cells that our body produces stops producing amino acids when a woman becomes pregnant it can be harmful not just to the woman but also to the fetus. Having poor nutrition during pregnancy can also cause harm to the fetus. Furthermore, our bodies are made to store lipids and carbohydrates,