Acid Maltase Deficiency Paper

ALS is also known as Amyotrophic Lateral Sclerosis is a disease in which the brain, nerves, and spinal cord deteriorate. It attacks every part of the body except the brain. Causing major body malfunction along with muscle weakening. Which includes lack of strength, the ability to move arms, legs and body, eventually you lose the ability to breathe. The average time of life after being diagnosed is two - five years. It was believed to be inherited or maybe an infection. After years of research scientist have found a major

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can lead to “liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders[, ...] cancer” (p. 13) and, in the end, death. Although it is more common in some communities than others, today the low-penetrance disease only manifests in 1 in 200 people.

It affects the motor neuron from the brain to the spinal cord then spreads to all the muscles in the body. You will not be able to simply reach for a smartphone or pick up trash off the floor because your muscles do not function the same and may not function at all. If you acquire ALS you could have full body paralysis. There are two types of ALS out there. There is familial and then there is sporadic. Familial is the type of ALS that can be inherited and passed down by parents or grandparents. But this only happens about 5-10% in the United States. It can almost happen to anyone out there. There is a 50% chance that it can be passed down but it does not always come into effect. Then there is sporadic ALS. You get this by seriously injuring your head or maybe even just a slight hit and it was just right to cause it. This is the more likely type you would get. In the United States you they are 90-95% chance of getting due to a brain traumatic injury. ALS can cause problems to your speech. It could make you have vocal cord spasms and impaired voice. It can cause difficulty of swallowing and can make you drool. You could have substantial weight loss, problems breathing, and it is hard to do everyday things depending on how severe your diagnoses is. It is normally in people ages between 40-70’s. It has a 100% fatality rate and the numbers in the US fluctuate year to year but usually makes it up to about 20,000 people could get it at any time but NFL players and military are more likely to get it because of the brain trauma they have been

Morquio syndrome is when the metabolism does not have enough or is missing a substance. These molecules are called glycosaminoglycans. When the body does not produce enough enzymes, serious problems can happen. Morquio A is a recessive inherited disease. Most of the time the disease shows up in 2 to 3 year olds.

Otherwise known as G6PD deficiency, people with an extreme case of this illness would experience hemolytic anemia, fever, and fatigue after eating fava beans or take drugs like primaquine. This is due to the fact that people with favism lack sufficient amount of the enzyme G6PD, which is important for protecting cells from chemical elements that would otherwise destroy the cells. The substances mentioned above act as the catalysts for the production of free radicals (un-paired electrons). As these un-paired electrons seek to pair with electrons in red blood cells with deficient amount of G6PD, it causes the cell membranes to burst. The loss of red blood cells when left untreated can cause the person to have kidney failure, heart failure, and death. As of now, there is no treatment for G6PG

Listener Relevance: Duchenne Muscular Dystrophy (DMD), is more common than people think and chances are sooner or later you will know of or see somebody affected by this disease.

ALS is usually described as a neurological disorder that weakens your muscles. In other words, your nerve cells begin to die and you lose voluntary muscle control. It affects every person differently, but it most commonly appears in your upper core

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can cause conditions such as “liver failure, heart failure, diabetes, arthritis,

Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of

Duchenne muscular Dystrophy (DMD) is the most common out of nine types of muscular dystrophy. This genetic disorder causes progressive muscular weakness, and deterioration due to the lack of a protein called Dystrophin. This protein keeps the muscles in tack, so when it's missing, the muscles slowly break down. (MDA, 2015)

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to break down (metabolize) specific amino acids in the body.(WebMD, 2015)

ALD affects the nervous system in the brain. The disease strips away the coating or the

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. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental