Physiology Of Human Growth And Development – HSN107 Assignment

Physiology Of Human Growth And Development – HSN107 Assignment Physiology Of Human Growth And Development – HSN107 AssignmentQuestion:Write a report for a diverse range of audiences on the genetic disorder “Phenylketonuria (PKU)” In this article you should inform the reader about the disease, prevalence, genetic mutation, clinical symptoms, diagnosis and nutritional management.Answer:Overview of the Disease:A defective gene caused by genetic mutation is the main cause of the Phenylketonuria (Pku) disorder that can be in the intensity of mild, moderate and severe. In the persons who are affected by the disorder, the defective genes result in the lacking or the deficiency of the enzyme which rakes active part in the processing of the phenylalanine (which is an amino acid). Often a dangerous build up of this protein can take part because the enzyme cannot function successfully (1). When such individuals take in protein rich foods  like that of milk, nuts, cheese, milk and other grains like bread and pasta, aspartame and artificial sweetener, the protein buildup further intensifies. This build up of the protein ultimately cause damage in the nerve cells in the brain. Therefore, when they are diagnosed with the disorder, they have to strictly maintain their diets that need to have limits on the protein phenylalanine (2).ORDER A PLAGIARISM-FREE PAPER HEREPrevalence:The Phenylketonuria (Pku) is a rare genetic disorder that is mainly seen to affect one in every 10000 Australian babies. The knowledge of the Australian about the disorder is very limited. The parents are only seen to have heard the name of the disorder when their babies are undergone the Guthrie test (a heel-prick blood test) after they are born or from the “phenylketonurics warning” label that they found on the surface of some of the diet drinks. However, they still seem to develop no ideas about the disorder (3).Physiology Of Human Growth And Development – HSN107 AssignmentGenetic mutation:Mutation in the PAH gene mainly results in the occurrence of the disorder. The PAH gene mainly helps in providing various forms of instructions for making of the enzyme called the phenylalanine hydroxylase. This enzyme is helpful in the conversion of the amino acids namely phenylalanine to different types of compounds within the systems. When the gene mutations affect the gene, it causes reduction in the activity of the enzyme and therefore the protein namely phenylalanine cannot be processed from the diet. In the course of time, the amino acid is seen to be built up in the in the blood and other tissues in toxic levels (4). The nerve cells in the brain are particularly sensitive towards the phenylalanine levels and therefore, their excessive amounts of this substance can cause brain damages. Studies are of the opinion that classic PKU, which is the most rigorous form of the disease, is seen to occur when the enzyme phenylalanine hydroxylase activity  become severely impaired or remains totally absent. Physiology Of Human Growth And Development – HSN107 Assignment