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... ... middle of paper ... ...apter 362. Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e. Retrieved January 21, 2012 from http://www.accessmedicine.com/content.aspx?aID=9144477. Medscape, Glycogen Storage Diseases Types I-VII. Retrieved at http://emedicine.medscape.com/article/1116574-overview. Moses, S.W. Historical higlights and unsolved problems in glycogen storage disease type 1. European Journal of Pediatrics 2002, 161: S2-S9. Nazir, Z. and Qazi, S.H. Urolithiasis and psoas abscess in a 2 year old boy with type 1 glycogen storage disease. Pedriatric Nephrology 2006, 21: 1772-1775. 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.
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)
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...
...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
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).
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.
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.
A. One condition is known as hyperglycemia, which means that the blood glucose gets too
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.
Hyperglycemia alone in the setting of an acute illness and isolated glycosuria may be due to other causes.
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
Within this category of diabetes, early resistance of insulin signifies the development of hyperglycemia, usually seen when the pancreas is unable to make enough insulin to compensate for the sensitivity of surface tissues. (Belinda 41). Seeing as the the symptoms are not as clearly indicated as type 1 diabetes, diagnosis tends to occur several years after the start of glucose intolerance. (Belinda 41). The time difference between the onset and diagnosis of the disease is very important, being that effective blood glucose management can slow down the failing of microvascular and macrovascular complications early on, which are both usually present at the time of diagnosis. (Belinda 41). Although similar to type 1 diabetes, the development of type 2 is only due to the deficiency of insulin resistance and secretin not a complete loss of it. (Belinda 41). As this disease continues to progress, a decrease in the beta cell’s ability to integrate insulin results in this deficiency in the beta cell response to insulin (Belinda 41). Additionally, the constant state of hyperglycemia and increase of fatty acids also add on to the deficiency, which is often called glucose toxicity (Belinda 41). The central component of type 2 diabetes is abnormality of insulin action (Belinda 41). Several tissues such as muscles, adipose and liver begin
Early reports of KRDY emphasized the association with malnutrition, as wasting or underweight was noted in 25-50% of patients. Under-nutrition at presentation could reflect in part the effects of long standing glycosuria, and may improve if insulin treatment in maintained in the presence of relatively poor protein-calorie intake. Alemu et al.. and colleagues have described the phenotype of more insulin requiring patients in 2 regions of Ethiopia as follows: lean, poor, peak age at diagnosis being approximately 25 years with male preponderance and no clinical evidence of structural pancreatic abnormalities. This phenotype resembles previous descriptions of KRDY form rather than classic Type 1