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Maple syrup urine disease conclusion
Maple syrup urine disease conclusion
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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:
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...
completed, the tubes are stored at 4°C until analysis of the tubes. To alylize the PCR results with
Abstract: The use of high fructose corn syrup as a sweetener in various food and drink products has drastically affected the American people in the last three decades. Dominating 55% of the sweetener market because of its industrial benefits, HFCS’s increased use has caused dramatic effects in its consumers, including upsetting normal hormonal functions, destroying vital organs, nerves, and throwing off the body’s mineral balance. As the use of HFCS increased, the rates of obesity, diabetes, and related health problems have escalated, resulting in a nationwide epidemic.
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Frequent urination results from the body trying to excrete the excess glucose and thirst follows as dehydration sets in. Hunger, fatigue, mental fogginess, irritability, and mood changes result from a deficiency in ATP as the body cannot produce enough purely through fat metabolism via ketones. Acetone breath quickly follows as the body starts to upregulate fat metabolism in an attempt to use ketones for ATP production. This metabolic pathway creates various ketones, but one ketone acetone, is toxic and is excreted via the lungs. It can be detected as a “fruity” odor in the breath. This upregulation of fat metabolism creates a crisis known as diabetic ketoacidosis which can lead to a coma or even death (Harvey, 2012). Another life threatening acute symptom which is not as common in type 1 as type 2 diabetes is hyperglycemic hyperosmolar nonketonic syndrome or HHNS which can result in serious consequences such as a coma or even death. It is caused by increasing blood sugar and dehydration without the presence of ketones (Harvey, 2012). It can be caused by severe infection, severe illness, and medications that reduce glucose tolerance and increase fluid loss (Harvey, 2012). The various acute symptoms of type 1 diabetes are just as deadly as the long term effects of poor blood sugar
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Methemoglobinemia is an uncommon but possible reason for cyanosis. Methemoglobinemia is significant because the disease is fairly rare and consequently most physicians do not consider it as a cause when diagnosing a patient with cyanosis. Regrettably, patients often get misdiagnosed and sometimes treated for the wrong disorder as a result. A two fold dilemma occurs when the patient is treated for an incorrect disorder. The first part of the dilemma includes the patient experiencing all of the negative side effects of the wrong treatment, and gaining no benefit. The second part of the dilemma is that the patient’s actual medical condition is not being treated, and is getting worse with time. The higher the level of methemoglobin in the blood the higher the patient’s chances of dying are. Another thing for doctors to acknowledge is when methemoglobinemia is not considered a valid diagnosis; numerous unnecessary laboratory tests are performed. When unneeded laboratory tests are performed the medical laboratory technologist’s time is wasted when they could be running another patient’s samples. Also running unnecessary laboratory tests costs a great deal of money. During the analysis of cyanosis, physicians should consider methemoglobinemia as a valid diagnosis.
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
This can result in single gene disorders that may or may not be life threatening depending on the mutation. For example, the Maple Syrup Urine Disorder, or MSUD, is a potentially fatal disease that disables the body from breaking down valine, leucine and isoleucine. These three amino acids are used to build proteins and are eventually broken down by branched –chain alpha ketoacid dehydrogenase (BCKD). Individuals who are affected by MSUD have a mutation that lack one of the six proteins that assist in the breakdown of the three amino acids. As a result, increased levels of valine, leucine and isoleucine end up in the blood stream and cause degradation of brain cells. In order for the disease to be inherited the child must obtain an altered gene from each parent, which makes MSUD an autosomal recessive
Rationale: These laboratory test results have been shown to be fair indicators of malnutrition. Ackley and Ladwig p. 576