Introduction:
Glycogen storage disease is the result of a defect in the synthesis or breakdown of glycogen that is found in muscles, the liver and many other cell types. This disease may be genetic or acquired and is usually caused by a defect in certain enzymes that are important in the metabolism of glycogen. To date, there are 11 different classifications for glycogen storage disease but this paper will focus on glycogen storage disease type 1 (GSD I), also known as von Gierke’s disease, after the German doctor who discovered it.
GSD I is an inherited autosomal recessive disorder with the incidence being 1 in 100,000. Parents may be heterozygote carriers, making them asymptomatic, however they have a 25% chance of having a child that is affected by GSD I. Prenatal diagnosis can be made by completing a liver biopsy at 18-22 weeks but no fetal treatments are currently available and standard newborn screening tests are not able to detect GSD I.
Background and epidemiology:
GSD I is a genetic disease resulting from the deficiency of the enzyme glucose-6-phosphate (G-6-P) and glucose-6-phosphate translocase (Andria et al). These particular enzymes are important in enabling the liver to produce glucose from glycogen and/or generate new glucose via gluconeogenesis. The inability of the liver to produce glucose from these metabolic pathways can result in severe hypoglycemia since the liver is responsible for maintaining blood glucose for the body in periods of fasting. The reduction of glycogen breakdown can also cause the kidneys and liver to become enlarged because excess glycogen is typically stored within these two organs. The liver and kidneys can typically function normally during childhood, however because of the increas...
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Wikipedia, the free encyclopedia. Glycogen storage disease type I. Retrieved at http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I.
Lysosomes contain hydrolytic enzymes which function in the acid of the lysosome and are meant to be secreted not as wastes into the extracellular fluids, but as secretory proteins into an intracellular organelle. When one of these enzymes is dysfunctional, the catabolism of its macromolecule does not completely occur and there is a buildup of the macromolecule inside the lysosome. This results in great numbers of large lysosomes which begin to interfere with the normal functions of the cell. This disorder is called lysosomal storage disorder. These disorders can eventually lead to the dysfunction of the organs. The organs affected by the disorder are determined by two factors: 1) The location in the body where the macromolecules that are to be catabolized are found, and 2) The location where the catabolism occurs.
Glucose is a sugar that plays a big part in a human’s health and well-being. This sugar is a major source of energy for the body’s brain and cells. The Cells that receive energy from glucose help in the building of the body’s muscle and tissue. Although glucose may be important to the body too much of this sugar can cause a chronic condition called Diabetes. Diabetes, also known as Diabetes mellitus, is a chronic condition that is caused by too much sugar in the blood. This condition can affect all age groups. In fact, in 2010 a survey was taken by the National Diabetes Information Clearinghouse, on the number of newly diagnosed diabetes. Out of 1,907,000 people: 24.38% were ages 20-44, 55.17% were ages 45-64, and 20.45% were ages 65 and greater. Diabetes is a very serious condition, and it can be deadly if left untreated. This paper will help better educate the reader on the signs and symptoms, the testing process, and the management of diabetes.
In normal individuals, the capacity of the liver to phosphorylate fructose (fructokinase activity) greatly exceeds the liver's capacity to split fructose 1-phosphate (aldolase B activity). Why is a deficiency of fructokinase a less serious genetic defect than a deficiency of fructose 1-phosphate aldolase? Consider what happens to fructose in each case and what effect this has on hepatic metabolism. (20
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
According to Lewis and associates, DM is a chronic disease that affects multiple body systems. For the purpose of this paper, only DM type 2 will be discussed based on the assumption that a majority of patients aged 60 years or older have this type. The primary defects of this disease consist of insulin resistance, decreased insulin production, inappropriate glucose production by the liver, and alterations in production of adipokines. Insulin resistance is the result of defects in the body’s insulin receptors. This finding predates all cases of DM type 2 and the development of impaired glucose tolerance. In insulin resistance, beta cells in the pancreas are stimulated to increase insulin production to compensate for the lack of response by the insulin receptors. Gradually, the beta cells begin to fail to secrete enough insulin to meet the body’s demands resulting in hyperglycemia. As a result of increased glucose in the liver, the liver begins to malfunction and release glucose at inappropriate times, thereby worsening hyperglycemia. Adding to the problem, glucose and fat metabolism is altered in adipose tissue, which is generally abundant in those with DM type 2. (Lewis et al., 2011)
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
While the Type I Gaucher Disease is non-neuronopathic (not affecting the nervous system) the second two types are neuronopathic. Yet even though the three types of Gaucher produce different symptoms, all three types result from the same cause: a lack of glucocerebrosidase enzyme. The glucocerebrosidase enzyme functions to break down the compound glucocerebroside, a fatty compound which usually is stored in all cells of the body in very small amounts. In Gaucher patients, an excess of glucocerebroside builds up in the body, and is stored abnormally in lysosome, or storage cells (3) . Typically, macrophages are able to aid in the degradation process of glucocerebroside. However, due to the lack of glucocerebrosidase in Gaucher patients, glucocerebroside stays in the lysosome, preventing macrophages from acting upon them. Macrophages which are enlarged and contain an abnormal buildup of...
A. One condition is known as hyperglycemia, which means that the blood glucose gets too
Chronic Wasting Disease is a highly transmissible, deadly neurodegenerative disease that affects cervids in North America (Belay et al., 2004; Saunders et al., 2012). There are only four types of cervid that are known to get this disease which include elk, mule deer, white-tailed deer, and moose (Chronic Wasting Disease Alliance). It has been classified has a transmissible spongiform encephalopathy (TSE), otherwise known as a prion disease (Belay et al., 2004). A prion is an irregular, pathogenic agent that causes abnormal folding of specific proteins called prion proteins. These proteins are mostly located in the brain (Chronic Wasting Disease Alliance). The abnormal folding of this protein causes neurodegenerative diseases in a variety of species including humans, sheep, cattle, and deer (Abrams et al., 2011).
...rmeulen A, Kho TL; Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet. 2001 Jan 13;357(9250):138-40. Available at: http://www.ncbi.nlm.nih.gov/pubmed/11197415?dopt=Abstract Accessed 8th July 2010
Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40,000 to 60,000 have Gaucher disease or about 10,000 people worldwide (Hughes, 2013). In addition, Gaucher disease has a higher frequency among Jews of Ashkenazi (Eastern European) decent: up to 1 in 450 people.
In order for the body to maintain homeostatic levels of energy, blood glucose regulation is essential. Glucose is one of the body’s principal fuels. It is an energy-rich monosaccharide sugar that is broken down in our cells to produce adenosine triphosphate. In the small intestine, glucose is absorbed into the blood and travels to the liver via the hepatic portal vein. The hepatocytes absorb much of the glucose and convert it into glycogen, an insoluble polymer of glucose. Glycogen, which is stored in the liver and skeletal muscles, can easily be reconverted into glucose when blood-glucose levels fall. All of the body’s cells need to make energy but most can use other fuels such as lipids. Neurons; however, rely almost exclusively on glucose for their energy. This is why the maintenance of blood-glucose levels is essential for the proper functioning of the nervous system.
GDM is usually found within the second trimester of a pregnancy and increases until the end of the pregnancy. Usually within a few hours of delivery, the condition resolves itself (American Diabetes Association, 2010). For people with no problems, the intestines and stomach digest the carbohydrates that we take in into glucose, which is the body’s main source of energy. After we digest our food, the glucose moves to the bloodstream. To get the glucose out of your blood and into the cells of your body, the pancreas makes a hormone called insulin (Mayo Clinic, 2010).
Type 1 diabetes, also known as insulin dependent diabetes mellitus, IDDM, or juvenile diabetes’ consequences are from the body’s failure to generate insulin. It is an autoimmune disease distinguished by failure of the insulin producing beta cells of the islets of Langerhans in the pancreas on the way to insulin shortage. Type 1 diabetes is of the immune-mediated nature, where beta cell loss is a T-cell mediated autoimmune attack. Most people are healthy, in a healthy weight, when the sudden onset of type 1 occurs. It can occur at any age, mostly young, hence “juvenile diabetes”. It has some connection to hereditary. Various factors contribute to type 1 diabetes as well as genetics and exposure to certain viruses. Signs and symptoms come on suddenly and include increased thirst (polydipsia), frequent urination (polyuria), extreme hunger (polyphagia), weight loss, fatigue, and blurred vision. Some known risks are family history, genetics, and geography. Other possible risk factors include viral exposure, low vitamin D levels, and drinking water that has nitrates may increase the risk as well.