A Summary of Alkaptonuria Alkaptonuria is an inborn error of metabolism that presents most notably with the occurrence of black urine when the urine is exposed to air. For this reason‚ it is also called the “Black Urine” disease. It is an autosomal recessive disorder and is therefore inherited genetically. Alkaptonuria is very rare‚ with a presentation of about 1:250‚000(ref1). The causality behind Alkaptonuria is a deficiency in homogentisic acid 1‚2 dioxygenase‚ an enzyme that is found in the
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Alan Watson Mrs. Lefever Biology 19 April 2010 Maple Syrup Urine Disease I. General Information -Maple Syrup Urine disease is an inherited disorder in which the body does not and is unable to process certain protein building block called amino acids leucine‚ isoleucine‚ and valine. -To treat this disease the infected would have to have a protein-free diet. Fluids‚ sugars and possibly fats are given through a vein (IV). II. Nature of this Mutation -Symptoms of this
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Condition: Maple Syrup Urine Disease Maple Syrup Urine Disease is a genetic disorder caused by mutation in the DBT‚ DLD‚ BCKDHB‚ and BCKDHA genes‚ which codes for Branched Chain Keto Acid Dehydrogenase (BCKD). Normally‚ BCKD would process the keto acid derivatives for leucine‚ isoleucine‚ and valine and continue them on their respective metabolic pathways. As a result of these breaks in the metabolic pathway‚ the patient may suffer from mental retardation‚ lethargy‚ poor feeding habits‚ vomiting
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Maple Syrup Urine Disease Maple syrup urine disease or MSUD is a genetically inherited disease‚ characterized by a maple syrup odor found in the sweat‚ urine and earwax of affected individuals. This metabolic disorder was first documented in medical literature in 1954 by John Hans Menkes‚ a pediatric neurologist who would also discover Menkes Disease. People with this condition lack specific enzymes required to metabolize certain amino acids. It is also commonly known as BCKD deficiency‚ branched
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Huong Trinh Maple syrup urine disease Summary Maple syrup urine disease (MSUD) is an inborn error of metabolism which is caused by the branched-chain amino acid metabolism disorder. This disease happens when the body is unable to process certain protein blocks (amino acids) properly‚ then accumulate abnormally in the cells and fluids of the body‚ usually associated with newborn babies. Notably‚ the urine of patients often has a strong maple syrup odor. MSUD patients have inherited one
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Urine Specific Gravity Each day an adult excretes between 800ml and 2000mL of urine. This amount varies depending on various conditions that can influence fluid loss and fluid intake. For example‚ the loss of fluid through heavy sweating in hot weather reduces urine amounts. The minimum volume of urine needed to remove body wastes from an adult is about 500mL/day. The specific gravity of urine can be an indicator of disease or disruption in normal metabolism. As you recall from our earlier discussions
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Urine Analysis Lab Report Objectives: To learn what tests can analyze a person’s urine and what they find Chem – 9 Test Specific Density Microscope Analysis of Urine To analyze a urine sample Examine presence of normal/abnormal elements Use urine sample to find specific gravity‚ pH‚ and chemical parts To have a better understanding of filtration‚ reabsorption‚ and secretion‚ and see how they affect urine production. Background: There is a lot of importance that comes with testing urine. Many different
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Kharishma Patel BIO 3422-E Urine Analysis Lab Objective The objective of this experiment shall be to examine the effects of different types of fluids on the renal system including rate of urine production‚ pH‚ and specific gravity. Hypothesis The group drinking water will have the highest rate of urine production. The group that drinks water only when thirsty will have the lowest rate of urine production. The specific gravity of urine for all treatment groups will be around 1.000. The pH for
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3.How to detect the fraud? There are many ways to detect the fraud .They can simply be divided into two categories One is quantitative analysis‚another is qualitative analysis. In quantitative analysis‚the sample is fifty thousand investment company which issued form ADV ‚ form ADV is required to issue to SEC when the investment company’s client number more than 15 people or the size of asset under management is larger than $ 25 million ‚ if you did not issue the document or it is not correctly
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Urine production If body fluids are hypo osmolar‚ then kidney will produces hypo osmolar urine. (Dilute urine) If body fluids are hyper osmolar (dehydration) then kidney produces hyperosmolar urine. (concentrated urine) In the renal cortex the osmolarity of interstitial fluid is 300mOs/L going to 1200mOs/L in the papilla. From the cortex to the papilla there is an increasing hyper osmolarity of the interstitial fluid. Cortico papillary osmolarity gradient. Urine with osmolarity more than 300mOs/l
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