Phenylketonuria Essay

Cystic fibrosis is an autosomal recessive disorder located on the seventh chromosome. It is a commonly inherited disorder and is seen in children. It is most commonly seen 1 in every 3419 live births to parents who are from white, European descent (VanMeter, Hubert, 2014). Cystic fibrosis is an obstructive lung disease. Thick, sticky mucous obstructs airflow in the bronchioles and small bronchi, causing air to be trapped leading to atelectasis and damage to the bronchiole walls (VanMeter, Hubert

Abetalipoproteinemia (ABL) is a rare inherited disorder affecting fat metabolism. Abnormal fat metabolism prevents the body from completely absorbing dietary fats, cholesterol, and fat-soluble vitamins. Without treatment, people affected by this disorder can experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities in which the red blood cells deform resulting in low levels of circulating red blood cells (anemia). Dietary fats and vitamins are

Phenylketonuria is a disease that takes place in the blood where it blocks proteins. 1 in 15,000 babies or people get this rare disease. Some of the symptoms are skin rashes, seizures , and taking longer to crawl or walk. Phenylketonuria Is hard on the body to work on walking and crawling, When the body needs to walk it takes longer to do those things for the baby to develop. Babies have to be tested right after there are born to be diagnosis if they have the disease or not. Every time a baby

Phenylketonuria also known as PKU is an inherited metabolic disorder that presents itself soon after a baby is born. According to the US Department of Health and Human Services only one child out of 150,000 is diagnosed with phenylketonuria (2011). For a child to inherit this disorder both of parents have to carry the PKU gene even if they do not have the disease (Mayo, 2014). Even if a woman with PKU is pregnant it does not necessarily mean that their baby will also inherit the disease. Complications

can come from the mother’s surroundings are environment. If the mother contracts an infection or disease, any of these can cause abnormal development of the fetus. An example on environmental modification from a genetically controlled effect is Phenylketonuria also known as PKU. This is caused when mutations to a gene that encodes a liver enzyme phenylalanine hydroxylase and is in all protein. Since

Phenylketonuria (PKU), most people have never heard this word before, or know that it is a rare genetic disorder. Unlike most people, I know a lot about it because I was born with this metabolic disorder. The disorder stops my body from breaking down an amino acid called phenylalanine like its suppose to. Along with limiting my food choices, it can also cause minor to severe complications, such as, neurological problems, hyperactivity, and delayed developmental problems. What does this have to do

Square demonstrates the inheritance pattern of phenylketonuria in two heterozygous parents. The inheritance pattern in the squares indicates that there are three possible genetic outcomes. The father and the mother supply the offspring with a dominant P gene in the top left quadrant resulting in a homozygous dominant offspring. The offspring in the top left quadrant receives two dominant alleles from both parents and therefore, does not have phenylketonuria. Also, the offsprings in the second and third

In the 20th century, genetic testing was initiated to determine whether an individual had a genetic disorder or not. Newborns were tested for a condition known Phenylketonuria (PKU). PKU is a condition where by a buildup of an amino acid known as phenylalanine in a baby’s body leads to intellectual impairment and possible brain damage. This amino acid is built up when a baby lacks an enzyme that converts phenylalanine into another amino acid called tyrosine. The screening tool used is known as the

genetic condition characterised by the inability to produce an enzyme or underproduction of that enzyme, leading to health problems caused by problems with the metabolism. (What is an Enzyme Deficiency, 2016) Some examples of deficiencies include Phenylketonuria (PKU), Acute Itermittent porphyria, Alkaptonuria, and Lesch-Nyhan Syndrome. These conditions are part of a larger family of diseases classified as inborn errors of metabolism. Such conditions may be inherited from one or both parents, or the result

The Accident Aspartame was created by accident. In 1965, James Schlatter was trying to test an anti-ulcer drug. Schlatter testing his experiment spilt APM on himself. He decided that he wasn’t going to waste his time researching if it was toxic or not. So, Schlatter continued his experiment. When he was ready to lift weighing paper, he licked his fingers and found that the substance on them tasted sweet. This lead to multiple tests trying to reach the same taste. Although after multiple tests, they