Zellweger syndrome is an autosomal and recessive disease. It is part of one a 4 disease of disorders known as peroxisomal biogenesis disorders. It is caused by absence of peroxisomes, which remove the body of toxic substances in the liver, brain, and kidneys. The most common features the zellweger syndrome patients include swell liver, high levels of copper and iron in the blood, and vision disturbances. This disorder results from the inheritance by 2 mutations genes for one of the receptors (PXR1) needed to import proteins into the peroxisome. Then the peroxisome enzymes become unable to enter the peroxisome and long chain fatty acids cannot be metabolized and hydrogen peroxide just stable to affect the cell. A baby with Zellweger syndrome will die within six months to a year after it is born. Statistics indicate that 1 in 50,000 babies are diagnosed with Zellweger syndrome. Today there is no cure for ZS just some drugs to relieve symptoms. The main treatment for this condition will be based on care and supportive care from parents and health care centers for make a good life for ZS children.
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The diseases are caused by defects in any one of 13 genes termed by PEX genes. Those genes required for the natural synthesis and function of peroxisomes. Peroxisomes are required for normal brain development, function of formation of myelin, the whitish substance that coats nerve fibers. They are also helpful for normal eye, liver, kidney, and bone functions. Once a person with Zellweger syndrome has been born, peroxisomes is finish, damage kidneys, liver and white matter in the brain. In the results comes from this condition with high-levels of copper and iron that build up all this things, causing the symptoms that are characteristic of the
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It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
Even with the high caliber of information provided, Schweikart has a very large underlying bias that is subtly seen in all the chapters. Though despite this Schweikart deserves applause, the information is presented well and the bias can be overlooked when
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Name:MichaelAidan Mullarkey Formal Outline Directions: Following the instructions, complete each part of the outline below. Make a copy and save it into your drive so you can avoid missing a step. Print your outline for class on F day, 3/7.
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The example of this disorder is the people with this disorder have to rest more from doing simple activity such as walking. For example, the degree of muscle weakness may vary over hours, from day to day, or over weeks and months, tending to increase with repeated muscle use and to improve with rest. A short-term aggravation of symptoms may be triggered by a variety of factors, including infection, excessive