Zellwenger Syndrome

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Zellweger syndrome is a rare genetic disorder present at birth characterized by the absence of peroxisomes in liver, kidney, and brain cells. Peroxisomes help break down fatty acids. Symptoms include an enlarged head, seizures, vision/hearing problems, and liver/kidney issues. Affected infants often die in their first year due to their bodies slowly shutting down, as there is currently no cure.

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Zellweger Syndrome Casey Blew Honors Biology I

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The most common lysosomal storage disease, Incidence: approximately 1 in 40,000 for non-Jewish populations Caused by a deficiency of the enzyme glucocerebrosidase The glycolipid glucocerebroside accumulates in lysosomes of macrophages Lipid-filled Gaucher cells displace normal cells in Bone marrow Spleen Liver Lungs CNS Skeletal disease is slow to respond to ERT and widely varies. Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.

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