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Zellweger syndrome

Zellweger syndrome. Hans Zellweger. Zellweger syndrome is named after Hans Zellweger,a former professor of Pediatrics and Genetics at the University of Iowa who researched this disroder. Zellweger syndrome. A rare, congenital disorder A lethal condition1:25000 Autosomal recessive

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Zellweger syndrome

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  1. Zellweger syndrome

  2. Hans Zellweger • Zellweger syndrome is named after Hans Zellweger,a former professor ofPediatricsandGeneticsat theUniversity of Iowawho researched thisdisroder.

  3. Zellweger syndrome • A rare,congenital disorder • A lethal condition1:25000 • Autosomal recessive • Reduction or absence of functionalperoxisomes • PEX 1,2,5,7,10,12 and 16

  4. peroxisome Peroxisome is a small cellular organelles containing multiple compounds that are essential for normal growth and development.

  5. peroxisome With a diameter of 0.1 to 1.0 um. Contains a dense,crystalline core of oxidative enzymes. Contains more than 50 enzymes.

  6. Functions of the enzymes • The oxidation of very-long-chain fatty acids. • The synthesis of plasmalogens. • The enzyme luciferase.

  7. disorders • 2 categories: • single peroxisomal enzyme deficiencies • peroxisomal biogenesis disorders (PBDs).

  8. Causes Peroxisomes doesn’t have the enzymes they are supposed to have. ↑ The enzymes fail to be imported into the peroxisomes.

  9. Facial problems Vision disturbances Brain damages An enlarged liver High levels of iron and copper in the blood syndromes

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