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Zellweger Syndrome Research Paper

1017 Words5 Pages

Abstract:
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.

Introduction: …show more content…

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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