Phenylketonuria Research Paper

Introduction Phenylketonuria has been defined as a form of genetic abnormality that an individual acquires due to lack of PAH enzyme reduction that makes that individual unable to metabolize phenylalanine tyrosine. On the other hand, Down syndrome has been referred to a type of genetic condition that makes an individual to experience some sort of learning disability as well as different characteristic physical features. Down syndrome is also defined as a birth condition that is experienced by individuals who are born with an extra copy of chromosome 21.
Individuals who experience this condition tend to experience different physical issues and intellectual disabilities as well. People who are born with Down syndrome are usually unique in a way and may have different healthcare conditions. Some of the conditions that these
individuals experience in their lifetime include dementia, may have hearing disabilities, and at times, heart diseases are always experienced. It is apparent that the individuals with this type of disorder are affected by different factors that may either be physical or environmental. As such, the purpose of this paper is to compare and contrast the role of environment and biology in individuals suffering from PKU and Down syndrome.
Compare and contrast the role of environment and biology regarding individuals with phenylketonuria (PKU) and Down syndrome There are a different ways in which individuals with Down syndrome and phenylketonuria are affected when exposed to different environments.
To start with, it is important to note that phenylketonuria happens to be one of the best examples that can be used to explain the effects of environmental modification of a hereditarily restricted impact. Phenylketonuria is defined as a form of mental retardation that is brought about by the damaging effects of the abnormal breakdown of the important body amino acids and phenylalanine that are usually found in all proteins. Additionally, the specific enzyme that breaks down phenylalanine is usually defective as it accumulates and breaks down in an abnormal manner. The meaning of this is that, to those who suffer from phenylketonuria, it is possible for a single gene to impact his or her behavior and it happens to present a genetically influenced process. Additionally, it is important to note that Trisomy 21- chromosomal abnormality that results in either a partial or full extra chromosome 21 copy leads to mental retardation, motor skill deficit, and cognitive deficit among other serious health
issues. For purposes of this paper, it is important for studies to understand how the environment that an individual lives in affects the condition of those who are born with either PKU or the Down syndrome. In an example, for those individuals who are born with the PKU condition, the kind of diet that they are exposed to after birth determines significantly the kind of life that the involved person will lead. To these individuals, if they are not introduced to proper dieting, then there is a high likelihood of poisonous substances building up in their systems because the phenylalanine present in the milk that happens to be the basic diet for infants will not be broken down. As a result of the toxic materials build up in the system of the affected persons, mental retardation always happens to these individuals accompanied by their nervous systems being damaged at the same time. Fortunately enough, the environment can play a key role in preventing these conditions from happening via the diets that these individuals are exposed to. Concerning down syndrome, it is important to look at the effects of a caring environment being presented to the patient as well as exposing them to early specialist interventions that will significantly assist in improving the cognitive skills of the involve persons as well as their general quality of life. In an example, people who suffer from various health issues that are brought about by this condition may be assisted through an operation. In an example, for those individuals suffering from respiratory conditions as a result of being exposed to different environments can be assisted by way of surgery as a way of improving their health condition. In this, any form of surgical correction is viewed as a corrective measure that is effected by the environment that surrounds an individual. Again, it is important to note that, the intensity of a hereditary condition is often closely linked to the degree to which the involved patient is exposed to a supportive surrounding. Conclusion To conclude, it is important to note that the environment plays an important role in the process of determining the intensity of how the presented conditions will affect the population. It is important to note that, the environment can be detrimental as well as supportive to the patients suffering from these conditions thus making the environment one of the key factors that determine the severity of their health conditions. As such, the paper has met its objectives by stating clearly the important role that the environment plays towards influencing the stated conditions.