Maple Syrup Urine Disorder (MSUD) is a genetic disorder caused from a mutation arising from a deficiency in one of six proteins that collectively form the branched-chain alpha-keto acid dehydrogenase (BCKD) complex (Genetic Science Learning Center). MSUD is characterized by heightened plasma levels in the branched-chain amino acids and excretion of branched-chain keto acids producing a maple syrup aroma (Pangkanon, Charoensiriwatana, and Sangtawesin 41-43). MSUD is an autosomal recessive disorder which means an individual must inherit a copy of the MSUD gene from both of his/her parents to be affected. There are currently five clinical classifications for phenotypes of MSUD based on tolerance to dietary protein, clinical presentation and trials, enzyme levels and response to thiamine. The five phenotypes are: classic, intermediate, intermittent, thiamine-responsive, and E3-deficient types. The classic form of MSUD is the most common form which accounts for 75% of MSUD patients. The classic form is also the most severe of the five phenotypical forms. Depending on the severity there are multiple symptoms which are characteristic of MSUD. Symptoms can be mild such as weakness, feeding problems, and lethargy or the symptoms can be severe such as seizures, mental retardation, delayed motor development and brain edema. The severity of an individual’s symptoms corresponds to the form of MSUD they have. Untreated affected individuals with classic MSUD die within the beginning months due to persistent metabolic abnormalities and neurological degeneration. There is currently no cure for MSUD; however, it can be treated through life-long dietary management and aggressive management during delicate metabolic cycles. MSUD is a rare disease aff...
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...ound prior to these tests. This resulted in the complete removal of exon six in the mRNA.
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A 54 year old female was presented with complaints of lethargy, excessive thirst and diminished appetite. Given the fact that these symptoms are very broad and could be the underlying cause of various diseases, the physician decided to order a urinalysis by cystoscope; a comprehensive diagnostic chemistry panel; and a CBC with differential, to acquire a better understanding on his patient health status. The following abnormal results caught the physician’s attention:
Upon completion of the experiment we were able to examine the DNA. First, the electrophorese
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
Scriver, Charles R, Beaudet, Arthur L, Sly, William S, et al. (2001). The metabolic and molecular bases of inherited disease. 8th ed. London: McGraw-Hill. Pp 1634-1639.
The political situation of Australia is known to be relatively stable. Based on reports released by The Economist Intelligence Unit, the country is one of the world’s most politically stable countries which directly translates to the ease of doing business in the country, low political corruption, and a high amount of government support for business related functions. In terms of corruption levels relative to other countries, Australia is ranked the 11th lowest according the Corruption Perception Index as of 2014, which is fairly close to Canada at 10th place . Another aspect that Australia is similar to Canada in is the role of their military. Like Canada, they mainly focus on peacekeeping missions, humanitarian assistance,
"Polymerase Chain Reaction (PCR) Fact Sheet." National Human Genome Research Institute. 10 Dec. 2007. National Institutes of Health. .
Purpose: The point of this lab was to determine whether or not DNA was actually extracted in the prior week’s experiment, in which E. Coli bacteria’s was lysed and through a series of chemical extractions it’s inner contents were harvested.
This occurs when the systemic arterial blood is above 26mEq/liter and the blood pH is above 7.45 (Tortora, 2014). The cause of metabolic alkalosis is too much bicarbonate in the blood, prolonged vomiting, and extreme lack of potassium. When the regular compensatory mechanisms are not working, respiratory compensation through hypoventilation help bring back pH level to normal leaving HCO3- high. Lung assist in compensatory mechanism. Treating metabolic alkalosis consist of correcting Cl-, K+, and other electrolyte deficiencies by providing fluid solutions. Older age compromises the acid-base balance in metabolic alkalosis due to inadequate fluid intake of more water than Na+ which occur through vomiting, feces, or urine. These changes are associated with the kidney.
Canada is the largest producer of Maple Syrup in the world, so it is no surprise that the Canadian Maple industry has changed quite dramatically in the past 25 years. According to the Government of Canada, the efficiency of maple farms has increased by almost 20% in the past 25 years. In 1981, a farm would have been able to get 1,404,000 taps. In 2006, this number had increased to 3,913,000 taps per farm. In addition to increasing efficiency, the amount of maple syrup being produced by farmers has been increasing. Production increased 17.6% to 8.6 million gallons in 2011 compared to 2010(15). Exports of Canadian maple products also saw an upward trend in the past 15 years. According to statistics on Agriculture and Agri-Food of Canada, our exports of maple products by weight grew an outstanding 63% from 1997 to 2006. The number of organic maple syrup producers has dropped as a result of stricter organic production standards(23). Because of this drop, and because most of the organic maple syrup that is produced is sold in foreign markets, there may be an opportunity to make money by producing and exporting organic maple syrup.
Does your urine smell like maple syrup? Well if it does, then you might have Maple Syrup Urine Disease. Maple Syrup Urine Disease(MSUD) is a rare genetic disease that affects 1 in 180,000 babies. Maple Syrup Urine Disease is caused by a mutation caused on chromosome 19. A patient carrying MSUD experiences sweet smelling urine, comas, poor weight gain, seizures, and nausea. One treatment option is protein free diet where you do not eat any food containing protein. You could also prevent it with gene therapy.
Diabetes Insipidus is the less known form of diabetes. It is often accompanied by excess urine outflow, intake of fluid, and an increased thirst. Bedwetting due to lack of control and frequency, and an unusual concentration of urine is included. There are four types of DI, and each are completely different in treatment and causes. Most commonly, the cause is the lack of vasopressin, which concentrates urine to reduce its output. It is called pituitary DI because it is usually caused by the destruction of the back of the pituitary gland. It cannot be cured, but drugs can help with symptoms. Gestational DI is caused by pregnancy and usually disappears a few weeks after delivery. The placenta uses the vasopressin too fast and causes it. The symptoms are repressed the same way as pituitary DI. The third type of DI is caused by the kidneys inability to respond to the effects of vasopressin, called nephrogenic DI. It is resulted from drugs against kidney diseases, and could (or could not) be cured only by eliminating the drug or disease. Drugs can be prescribed to alleviate some of the symptoms. The fourth, primary polydipsia, is caused by excessive intake of fluids and has two subcategories. Dipsogenic DI is most common and usually associated with an abnormality in the brain that regulates thirst. Psychogenic polydipsia is caused by psychosomatic issues. Neither one can be completely treated.
Korsakoff’s syndrome is a brain disorder that is related to heavy alcohol use over a long period of time. This disorder is caused by a lack of Thiamine, or vitamin B1. Excessive amounts of alcohol use lead to Thiamine deficiency, which affects the brain and nervous system. Thiamine deficiency can be caused by poor eating habits, as heavy drinkers typically do not have nutritional diets that fulfill their vitamin needs. Alcohol can also disrupt the process in which Thiamine is changed into the active form, Thiamine Pyrophosphate. Alcohol also inflames the stomach lining, causing vomiting; again, this affects the body’s absorption of key vitamins. The effect alcohol has on the liver also affects the storage of these vitamins. Korsakoff’s syndrome is also related to another brain disorder, Wernicke-Korsakoff syndrome. This syndrome involves the Korsakoff syndrome and also Wernicke. Wernicke’s syndrome involves undernutrition, jerky eye movements, poor balance, and memory loss, which is caused by heavy alcohol consumption. If this condition is...
Rationale: These laboratory test results have been shown to be fair indicators of malnutrition. Ackley and Ladwig p. 576
...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.
...ed that the liver was able to detoxify sulfate properly. The last inorganic constituent tested was calcium, which was done by adding equal amounts of urine and Sulkowitch’s reagent. A large amount of white precipitate was form due to the dietary consumption of the subject which can be that milk was consumed daily. Finally, the last tested was the abnormal constituents of urine. When testing for glucose the results were negative because the reagent was not reduced meaning that it did not turned greenish or red-brown color. The presence of glucose indicates diabetes mellitus which is a metabolic disorder that is caused by the usage of defective carbohydrate. Then when testing for albumin and globulin the results showed that a large amount of protein was present, which means that the subject had an abnormal leakiness or severe damage of the glomerular membrane or both.