Phenylketonuria 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
Introduction Phenylketonuria, or PKU, is “a genetic disorder in which a defective liver enzyme results in the inability to metabolize phenylalanine, an essential amino acid found in all dietary proteins” (Paul, 2000, para. 1). Phenylalanine (Phe) controls the coloring of skin and hair. PKU, if it goes untreated, can cause seizures, behavioral and physical abnormalities, and hinder intellectual growth. While both scientists and doctors have made great strides in testing and treatment of PKU here
Nature vs Nurture The issues pitting nature against nurture are exceptionally significant for the gamut of discoveries that attribute an increasing proportion of traits and behaviours to one's genetic makeup. The resulting variety of physical shortcomings and limitations in each person has, for centuries, been countered by endeavours to improve or interfere where necessary, and every individual is consequently the product of a delicate middle path of balance between the two. The importance
known as newborn screening. Newborn screening can detect disorders that will occur later in life and try to treat them earlier in life. Disorders like phenylketonuria a genetic disorder that causes mental retardation in newborn babies as they get older if not treated early at birth and hypothyroidism a disorder of the thyroid gland. Phenylketonuria is defined as an inherited disorder that increases the levels of a substance called phenylalanine in the blood. When it comes to any protein phenylalanine
Human bodies differ from one another. For an unborn offspring, there are many factors affecting its phenotype, including the s given by its mother and father or possible hereditary traits from a relative via associated pedigree. Each person normally has two copies of each gene (s) - one given by his/her one mother and the other given by the father. These can be either identical, in which case they are referred to as to as homozygous, or different (referred to as heterozygous). Furthermore, alleles
Retinitis pigmentosa is a genetic disorder that causes blindness in the people that are affected by it. I chose retinitis pigmentosa because my grandmother has this genetic disorder. The disorder is very costly on those who have it. The disorder has robbed my grandmother of the life she wanted. She is no longer able to do the things she once was. She is legally blind, cannot drive, and has trouble getting around crowded areas. Retinitis pigmentosa was discovered by Doctor Donders in 1857. Retinitis
“The carrier rate for Tay-Sachs in the general population is 1/600” (OMIM). Sandhoff Disease is a rare genetic disorder, and it is a severe form of Tay-Sachs that progressively destroys cells in the brain and spinal cord. Since its discovery and analysis of inheritance, there have been advancements of its diagnosis, treatment, research, and its support resources for affected families. Those affected individuals lose motor skills and function of other body parts. As the disease progresses they experience
The nursing profession is trusted to provide answers to their patients regarding questions of health, illness, and disease. Genetics often play a part in the overall wellness and health of particular individuals. The family health nurse should help family members understand the challenging aspects that genetic information will have on their own life, family structure, beliefs, and cultural norms (Daly, 2015, p. 550). This discussion post will explore a counseling scenario that involves a counseling
What is Pompe Disease? Pompe disease is a genetic disorder which deals with a mutation within a gene called the GAA gene, glucosidase, alpha; acid, and produces an enzyme to produce a buildup of glycogen, a complex sugar, within body cells which cause the lysosomes to not reuse the sugar properly. The name of this enzyme is called alpha-glucosidase, more commonly known as acid maltase. The GAA gene is located on Chromosome 17 on the q arm between the positions 25.2 and 25.3 (GAA, paragraph 4)
Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot
Genetic screening can be used to refer to any activity that locates or advises people about genetically connected diseases. The first large-scale genetic screening project began in the 1960's with the Guthrie test which tests infants for PKU (phenylketonuria) (Munson, 1996). Currently with the advances being made by the Human Genome project we are achieving a much more detailed understanding of the relationship between specific genes and diseases. Approximately nine hundred gene or gene markers have
Genetics is the study of heredity and the variation of characteristics inherited from parent to child through generations. Genetics are passed down through chromosomes in DNA which are located in every cell of the body. Each cell contains 46 chromosomes (23 pairs) including the X and Y chromosomes. The only exception to this are the sex cells (sperm and egg) which have 23 chromosomes. Each chromosome carries genes for a certain trait which will be inherited to the offspring. When a new organism is
Genetic disorders are a topic in biology that can not be avoided. The fact is that genetic disorders can happen in humans, plants or animal. No one and nothing is safe from a genetic disorder. A genetic disorder can appear in the first years off life, or can appear much later in life when least expected. A basic principal of biology states that the behavior of chromosomes during the meiosis process can account for genetic inheritance patterns. There are many reasons for genetic disorders. To start
In this lab we are trying to discover more about the models of inheritance and how to distinguish the differences between the different models and how drosophila, or also known as fruit flies, inherit the traits. We were given four populations and by crossing the offspring of parents with certain traits we were supposed to identify what model of inheritance was used. The four models of inheritance are dominant- recessive, incomplete dominance, codominance, multiple allele, and sexlinked. Dominant-recessive
Phenylketonuria is the inability to metabolize the phenylalanine, which damages the brain and nerves. Phenylketonuria is an inherited disorder that increases the levels of phenylalanine in the blood. Basically, phenylalanine is the building block of amino acids and found in all proteins. If Phenylketonuria isn’t treated, it can create a build up of phenylalanine that can be harmful to the body. If left untreated, it can cause intellectual disability and slow growth and brain damage. The symptoms
Inheritance Patterns of the Fruit Fly The fruit fly, or the Drosophila melanogaster, was used in this experiment to study patterns of inheritance. It only takes a fruit fly 14 days to develop from an egg to an adult and then 12 hours before they become reproductive, so these factors made the fruit fly a good species to study, because we had enough time to do crosses. We were investigating the patterns of inheritance in the eye color and the wings. The wild type flies had red eyes and full wings
Hydrocephalus is a genetic disorder commonly described as “water on the brain.” In actuality, this is a condition in which there is an excessive accumulation of cerebrospinal fluid (CSF), a clear watery fluid that surrounds the space between the brain and spinal cord, in the brain. Normally, the production together with the absorption process of CSF is specifically balanced to ensure that the brain tissue remains buoyant, that nutrients can be delivered and waste removed, and that there is a compensation
Inborn errors of metabolism include phenylketonuria (rise of phenylalanine levels and adverse metabolic products), tyrosinaemia and albinism (relating with tyrosine), alkaptonuria (impair phenylalanine and tyrosine metabolism), homocystiburia (affects methionine metabolism), maple syrup urine disease (effects
There are many important things in our life that if we did not have them, we would die. One that not many people would think about is metabolism. The chemical reactions happening in our body are essential to life on earth. Metabolism can be a very confusing subject with many different parts to it. The process of getting energy from food during metabolism, diseases that are a part of it, and the exercise that affects it are three main parts. Metabolism is “all the chemical reactions that happen in
Intro Aspartame, also known as E951 on food labels, has been a very controversial food additive for decades. It is used to replace sugars in foods such as diet coke, desserts, and chewing gum. Many people fear it due to its bad reputation as being a “chemical” and unnatural, coupled with claims of side effects ranging from headaches to cancer. Its no wonder many people refuse to take even a hint of Aspartame!p But how bad is Aspartame? Are any of these claims true? History Aspartame is an organic