Saniyah Waqia & Oscar Zheng 7th Grade Fox 20 April, 2016 Maple Syrup Urine Disease A Brief Explanation of Its Genetics, Symptoms, and Treatments Introduction 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. Genetics Maple Syrup Urine Disease is caused by a mutation on chromosome 19 …show more content…
Sweet smelling urine happens all them time along with feeding difficulties, poor weight gain, and mental retardation. Comas happen in irregulars patterns along with lethargy, seizures, vomiting, and nausea. This happens because the acids that BCKD is suppose to break down is building up and because of that, it also makes it’s byproduct, keto acid, and too much of this acid is toxic and that is why you face comas and the other symptoms. Figure 2. This shows the symptoms for Maple Syrup Urine Disease Treaments The patient who has Maple Syrup Urine Disease has one treatment option, a protein free diet. This diet helps stop you from digesting proteins, therefore, the acids that build up in your body can no longer build up in your body, therefore, the disease is gone and all the symptoms too. The only possible symptom that can stay is mental retardation. A way to prevent this disease is gene therapy. You can go here is your family has a history of Maple Syrup Urine Disease. If you go here, they will take out the copy of MSUD and replace it with a regular copy so you would not have the copy in you anymore (Utah). Figure 3. This shows what you would not eat when having
As much as 95% of employers favor urine testing as a method for drug testing, and this one piece of statistic may have positively affected the trend and demand for synthetic urine over the years.
Your breath can have a sweet smell caused by the high levels of ketones in the body. Being a diabetic you are also prone to losing sensation in the lower extremities causing it to be difficult to notice any pain or injury in your feet. It can also cause your skin to dry and crack on your feet. It is extremely important to keep an eye on your feet to make sure no damage is done.
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:
The kidneys play a major role in the blood composition and volume , the excretion of metabolic wastes in the urine, the control the acid/base balance in the body and the hormone production for maintaining hemostasis. The damages to the GBM in the glomeruli alter filtration process that allows the protein and red blood cells to leak into the urine. Loss of protein like albumin in the urine results in a decrease of their level into the blood stream. Consequently, this patient’s blood reveals a decreased albumin (Alb) value of 2.9 g/dL, decreased serum total protein value of 5 .0 g/dL and in the urine presents of the protein and the RBCs. Impaired filtering capacity result in inability of kidneys to excrete excretory products like electrolytes and metabolic waste products that will then accumulate in the blood. Furthermore, inability of distal convoluted tubules to excrete sufficient quantities of potassium, sodium, magnesium (Mg), chloride (Cl), urea, creatinine (Cr), alkaline phosphatase (Alk Phos), and phosphate (PO4) results in their elevation in the blood. His laboratory values reveal an increased of sodium value of 149 meq/L, an increase of potassium value of 5.4meq/L, increased chloride value of 116 meq/L, increased blood urea nitrogen (BUN) serum of 143 mg/dL, and increased creatinine serum of 7.14 mg/dL. The other abnormal blood tests associated with a loss of kidneys’ filtration property identify in this patient are related to an increase of alkaline phosphatase value of 178 IU/L, increased magnesium value of 3.8mgdL, and increased phosphate (PO4) value of 5.9 mg/dL .
...e build-up. This diet also contains urine acidifiers to increase urinary pH which also contributes to the prevention and removal of struvite uroliths. S/D is not recommended as a long term diet due to the increased acidifying effect. After a feeding period of approximately 2-3 months, the diet should be switched to C/D Multicare Feline to help avoid reoccurrence.
The pathophysiology of diabetes mellitus in is related to the insulin hormone. Insulin is secreted by cells in the pancreas and is responsible for regulating the level of glucose in the bloodstream. It also aids the body in breaking down the glucose to be used as energy. When someone suffers from diabetes, however, the body does not break down the glucose in the blood as a result of abnormal insulin metabolism. When there are elevated levels of glucose in the blood, it is known as hyperglycemia. If the levels continue to remain high over an extended period of time, damage can be done to the kidneys, cardiovascular systems; you can get eye disorders, or even cause nerve damage. When the glucose levels are low in one’s body, it is called hypoglycemia. A person begins to feel very jittery, and possibly dizzy. If that occurs over a period of time, the person can possibly faint. Diabetes mellitus occurs in three different forms - type 1, type 2, and gestational.
1980, Pelchat et al. 2011). It was suggested first as a specific smell hypersensitivity by Lison et al. in 1980, meaning that the people that could smell the odor had a heightened sense of smell allowing them to distinguish the asparagus odor from regular urine odors. However, in the experiment conducted by Lison et al. (1980), there was not a big enough difference or variation between those that could smell the odor and those that could not smell it, these results do not have enough evidence to support that a specific smell hypersensitivity exists they simply show that each of the different subjects can smell the odor at varying concentrations of the diluted urine (Lison et al. 1980, McDonald 2011). The results of the experiment conducted in 1980 by Lison et al. could also be considered as inaccurate because they used a single urine sample for the experiment with unknown concentrations of the sulfurous compounds, the sample could have had a small concentration of the sulfurous compounds meaning only the most sensitive of noses could have registered the characteristic
... smoking; this is making their kidneys die quicker than they already are which are struggling to try to maintain a small amount of filtration process. Lastly, a second long term goal is to encourage a person who drinks excessive alcohol to stop because that will defiantly put the person at risk to die faster than the disease itself and will also affect their liver function as well. These goals are meant to help and restore the process of Acute Renal Failure but will only be accomplished if the person with this disease is willing to give it everything they got to fight or await a miracle to end their sickness.
Maple syrup is to people as honey is to bees. The production of syrup is as technical as almost any refined sugar, though like honey it is produced completely naturally, from the sap of maple trees. The process of creating maple syrup is as easy as extracting the sap from the tree and boiling off the excess water. After discussing the sap production, syrup production, and the process of creating maple sugar, we will all have a greater understanding of Maple syrup.
Being such, this disease can show small signs such as tingling in the fingertips, arms, and legs, temporary vision loss or red/ green discoloration, double vision, dizziness, and clumsiness. Sometimes the disease can skip the small beginner signs and show larger symptoms that are harder to dismiss such as, onset depression, inability to multitask, incapability to regulate bladder, fatigue mentally or physically, muscle spasms, and the inability to control one’s bladder. Signs and symptoms can occur over the course of one to ten days, and then disappear; this is known as an attack or
This article is for people whose kidneys fail to work. This condition is called end-stage renal disease (ESRD).
There are several causes to elderly dehydration, which can be broken down into four groups: physiological factors, psychological factors, functional impairments, and mechanical impairments. (Hamilton, 2001) The physiological factors are: natural 10% body fluid loss, diminish of taste making food less appetizing and adding salt for flavor, thirst diminishes, medications that are diuretics or laxatives, and draining wounds. (Hamilton 2001) The caffeine in coffee and soda, the theophylline in tea, and the throbromine in cocoa, all raise blood pressure along with increase production and elimination of urine. (Vasey, 2002) Alcohol, on the other hand, dries out the mucous membrane causing sclerosis. (Vasey, 2002) Diarrhea, vomiting, or febrile illness also contributes to elderly dehydration. (Moore, 2005) The psychological factors are: depression which contributes to loss of appetite, purposefully decrease fluid to reduce bathroom trips. (Hamilton, 2001) The functional impairments are: coma, paralysis and N.P.O (Nothing Per Orem) patients. (Hamilton, 2001) Elderly individuals with disabilities such as: visual, cognitive or motor impairment may need assists with water intake. (Kavanaugh, 2000) Tubal feeding may need additional water in the nutr...
Diabetic Ketoacidosis (DKA) is a serious disease with complications that may have fatal results in some cases. DKA is defined as an insulin deficiency that occurs when glucose fails to enter insulin into muscles such as: liver and adipose tissue. When there is an accumulation of ketones, it leads to metabolic acidosis which causes nausea and vomiting, as a result fluid and electrolytes are lost (Gibbs). There are many complications of diabetic ketoacidosis, some of the most prevalent are: Cerebral Edema, Hypoglycemia, and Acute Pancreatitis.
A. Symptoms: With diabetes, sugar builds up in the bloodstream which causes fluid to be pulled out from the tissue, causing increased thirst and frequent urination. Other symptoms include increased hunger, since the muscles and organs are depleted of energy caused by lack of insulin that put sugar in cells, and weight loss as a result of the usage of alternative fuels stored in muscle and fat since the body is unable to metabolize glucose. Diabetes also caus...
...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.