Glycogen storage disease

Glycogen Storage Disease and Hyperlipidemia Glycogen storage disease, according to Genetics Home Reference, is a disorder that is inherited, and caused by the buildup of the complex sugar glycogen in the body's cells. When an accumulation of glycogen occurs in certain organs and tissues it causes them to not work properly. According to Agsdus.org, “Glycogen storage disease occurs in about one of 50,000 to 100,000 births”. Glycogen storage disease is an inherited disease: This disease is inherited

screenings in multiple populations, it was concluded that the most common mutation shared between Caucasians is R864X. There are four types of Glycogen Storage Disease type III according to Lucchiari (2007). These types are known as type IIIa, type IIIb, type IIIc, and type IIId. These types are dependent on what activity they have a deficiency in. Glycogen Storage Disease type IIIa is when a patient does not have any activity of glucosidase and transferase in their liver and in their muscles. Type IIIb means

Ever heard of the term Glycogen Storage Disease Type 1? Well if you haven't that’s okay because it's not common. This is a disease that only 1 in 100,000 individuals have. Glycogen Storage Disease type 1, also known as GSD1 is an inherited genetic disorder that effects the way the body breaks down food into energy to keep blood sugar stable when a person is not eating. This happens when there is a missing or damaged enzyme. Not having this enzyme can be quiet dangerous. It leads to low blood sugar

Glycogen is a carbohydrate and mainly a stored form of glucose. This assignment will also include the molecular structure of glycogen. This molecular glycogenic structure (diagram) will be embedded into the body of the essay, together with the explanation of this molecular structure. Specific reference will be made to the polisaccharide characteristics thereof and will indicate the relation between different sub-divisions of the structure and how, where and why they are bonded together. The function

FACULTY OF HEALTH AND ENVIROMENTAL SCIENCES DEPARTMENT OF CLINICAL SCIENCES PROGRAMME: EMERGENCY MEDICAL CARE MEDICAL CASE STUDY STRESS Compiled by: Rodney W.K Heyns 213098814 CONTENT TOPIC PAGE No: • Introduction 3 • Stress 3 • Types of stress ` 3 • Psychology behind stress 4 • Specific Case Discussion 4 • Dispatch Information 4 • Differential Diagnosis 5 • History Taking 7 • Assessment 8 • Emergency Management 9 • Progress

day. However, when glucose begins to run out, especially if a person is rigorously exercising, and is not “restocked,” the body must use its energy supplies, glycogen. Glycogen is one of the most important polysaccharides in the human body. It is the body’s stored energy; with the highest storing sites being the muscles and liver. Glycogen is important to the liver because it is able to provide a backup supply of glucose so that blood glucose concentration is maintained at a sufficient level to supply

Background Pompe’s disease is a glycogen storage disease caused by mutation in a gene coding for the acid 1-4 alpha-glucosidase (GAA), the key enzyme in glycogenolysis within lysosomes. GAA deficiency results in accumulation of glycogen and successive enlargement of lysosomes. As the lysosomes enlarge, there is also accumulation of other related byproducts, overtaking the space regularly occupied by myofibrils and impeding their function (Lewandowska E et al., 2008). Individuals with a complete

McArdle 's Syndrome is a muscle metabolism disorder that is caused by a deficiency of the glycogen enzyme muscle phosphorylase (Quinlivan). Muscle phosphorylase is the enzyme that breaks down glycogen during glycolysis. Without this enzyme, the body has a difficult time going through anaerobic glycolysis and can cause an individual to experience intense muscle pains. It is estimated that 1 in every 100,000 people will get McArdle 's Syndrome (Haller). McArdle 's Syndrome is a genetic disorder, so

Tay-Sachs Abstract Tay-Sachs is a disease caused by a mutation to the gene which codes for Hex A. Without Hex A, a cell cannot degrade GM2 ganglioside into GM3 ganglioside. This results in a build up of ganglioside’s in lysosomes of neurons. The result is varying degrees of mental deterioration. New DNA-based screening is currently being developed to replace the enzyme-based screening techniques that have been used since 1969. This will not only speed up the diagnosis, but also allow for

Gaucher disease is an abnormality fat of storage. It is an increasingly genetic and very rare disorder that is most common in family members. The people who suffer the most, have consequences in the lack of of levels of a certain enzyme in the body. Because of this, a fatty lipid spreads throughout one’s human body. This disease is also known to be called lysosomal storage disorder. This type of disorder can cause symptoms to happen at any time of your life, whether it is childhood or adulthood.