Glycogen Storage Disease Essay

Glucagon acts on liver cells to promote breakdown of glycogen into glucose and formation of glucose from lactic acid and certain amino acids.

Liver is known as the metabolic port of entry for any endobiotic and xenobiotic substance. The anabolism and catabolism of most of the nutrients are in major performed by the liver. Carbohydrate, protein and fat metabolism by the liver is of significance as the anomalies in metabolism of these nutrients may introduce several types of metabolic syndromes. The protective effects of aqueous green tea extract have been shown on hyperglycaemia, hyperlipidaemia and liver dysfunction in diabetic and obese rat models [74]. Different nutrients combinations were tested in a long-term feeding in experimental mouse model. Regional and continental food habit and practices are very much different. Effects of Western, vegetarian, and Japanese dietary fat

Kramer, Roberts, and Zygun (2012) conducted a level I systematic review and meta-analysis of randomized controlled trials (RCTs) to assess whether tight glycemic control reduces mortality and improves outcomes in neurocritical care patients. A thorough search was conducted through Ovid interface, MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), and the Cochrane Database of Systematic Reviews. The search terms used were: “intensive glycemic control”, “neurocritical care”, and “clinical trials”. After the initial search, 3,040 references were identified. However, only sixteen studies were included. These sixteen studies involved 1,248 patients total, 654 patients treated with intensive glycemic control vs. 594

     In addition to clinical signs, laboratory tests and evaluations are necessary to classify a person accurately. Diagnostic tests include fasting plasma glucose, random plasma

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

Diagnosing the disease can be relatively simple, but this depends on accurate patient history and ones ability to recognize varied clinical signs and then perform diagnostic procedures. These diagnostic procedures may include antigen testing, x-rays, ultrasonography, angiography, a complete blood count, the Knott’s or Filter test, and in the worst case necropsy.

This condition is diagnosed based on an exam by your health care provider. Exams and tests will also be done to rule out serious physical health problems. These exams and tests will vary depending on your specific symptoms. They may include:

States. If both parents are carriers of this mutated gene, their child will have a 25% chance

There are different diagnostic tests that we can run to formally diagnose Hannah. We will use these results and the history we have taken to diagnose her. The first type of testing can be a urinalysis. This will test the urine for ketones present in the urine. Ketones will confirm that lipolysis (breakdown of lipids) and gluconeogenesis (the body’s process of maintaining glucose levels) which are found with hyperglycemia and is a sign of insulin deficiency (“Pediatric Type 1,” n.d.).

Metabolic syndrome is an emerging diagnosis in the medical field that has effects on patient care. Becoming familiar with it and having it become a common part of patient care will, if used appropriately will increase the lives of those who have become affected with or are at risk of becoming diagnosed with metabolic syndrome. Metabolic syndrome is a constellation of risks factors of metabolic origin that are accompanied by the increased risk of cardiovascular disease and type 2 diabetes. There are five major factors to look for; out of these five a person only needs three to be diagnosis with metabolic

For the genetic abnormality at the root of this disease, it is an X-linked inborn error of the glycosphingolipid metabolic pathway. Typically it is an X linked inheritance pattern that is neither recessive or dominant, and is x linked in this family history as well. The metabolic defect is in in the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A), which catalyzes the hydrolytic cleavage of the terminal galactose from globotriaosylceramide (Gb3). This results in accumulation of globotriaosylceramide within lysosomes in cells, in the vascular

Lipids and Carbohydrates Lipids are a group of substances, which include fats, oils and waxes. Carbohydrates include sugars, starches, glycogen and cellulose. They are stored in plants as starches and in animals as glycogen. There are many differences between carbohydrates and lipids.

Patient G.M. is a four-year-old female from a middle class family living in San Diego. She originally presented with her mother and father to her general practitioner with lethargy and several vomiting episodes in the past few days. Her father stated concern after realizing her frequent urination in the past week. Her vital signs upon initial assessment were HR 140 RR 22 Temperature 102.7 degrees Fahrenheit, BP 70/62, O2 saturation 97%, 32 pounds, and 40 inches tall. Her General practitioner was concerned about type I diabetes and performed a blood sugar check. Upon assessment the monitor read HI, indicating that the level was above 500 and too high for the monitor to read. The doctor informed them she needed immediate treated in the closest pediatric ER due to the potential for diabetic ketoacidosis.

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.

The most common symptoms of diabetes mellitus are chronic elevated blood glucose level. Glycosuria is a condition in which the kidneys excrete increased glucose as they are unable to reabsorb the excess amount. This leads to fluid and electrolyte excretion which leads to electrolyte imbalance and dehydration. Loss of glucose leads to increase in the use of fats and protein for the energy, which leads to accumulation of ketone bodies in the blood which leads to ketoacidosis (could be fatal).