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.
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
Yes, I would expect glycogen to accumulate in the muscle of this patient. The patient has type V glycogen storage disease which means he/she does not have muscle glycogen phosphorylase. Phosphorylase is an enzyme involved in the catalase breakdown of glycogen to glucose for use in muscle. This process is called glycogenolysis which is the breakdown of glycogen into individual glucose units in the form of glucose 1-phosphate. With-out that process glycogen will build up in the muscle because it is not getting broken down to glucose 1-phosphate that can be used for energy.
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
Type 1 diabetes has a genetic onset that often occurs in adolescence (Porth, 2005). It is an autoimmune disease in which the insulin-producing beta cells within the liver are destroyed (Dorman, 1993). This causes a deficiency in insulin secretion, which ultimately leads to high blood glucose levels, also referred to as hyperglycemia (Guthrie & Guthrie, 2004). The mechanism for insulin deficiency leading to hyperglycemia is described in more detail in the following section and in Figure 1.
‘Ketoacidosis’ is a common complication, especially of Type 1 Diabetes. It is the accumulation of ketones and acids in the blood. When the cells cannot utilize glucose as a source of fuel, they breakdown the fats and lead to development of ketoacidosis.
In Figure 3A, the ratio of glycolytic-oxidative enzyme activities was lowest in type 1 muscle fibers but highest for type IIb, with an average value in type IIa. The ratios were comparatively smaller in normal subjects than obese and type 2 diabetes.
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.
There are many different things that can go wrong in our bodies. A metabolic disorder can be one. There are many different kinds that maybe deadly if left untreated and others can be treated but still left to deal with for the rest of one's life. One disorder can be glycogen storage disorder this can affect many different age groups from new born to the elderly. It deals with the function of the body to obtain its greatest source from which it obtains energy from. It deals with glucose, now there are many different categories that can fall under this. Because the body will store glucose as glycogen then reconvert it back, now this is where the problem is found. The bodies of some individuals lack enzymes or an enzyme that is needed to convert it back. Because some lack the enzymes it is hereditary meaning you can be born with this. The human body is very fragile in that if one thing goes wrong you can count on that it will be affecting everything else that's around it and so on. So you may appreciate how well the body can adapt to things. Glycogen storage disorder is one that can lead to death if it is left without treatment in some cases or even failure of other parts of the body.
Hyperglycemia alone in the setting of an acute illness and isolated glycosuria may be due to other causes.
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.
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
Galactosemia is a genetically inherited metabolic disorder. This disorder leaves the disabled with a partial or complete lack of the enzyme Galactose – 1 – Phosphate Uridyl Transferase (GALT). This enzyme is found in the bloodstream and it is used for breaking down the sugar galactose. This disorder comes in two different variations. Though there is more than one type, it is still rare, having only 1 in 80,000 births being affected by the disorder.
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