Transcript Zellweger syndrome

Zellweger syndrome
Hans Zellweger
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Zellweger syndrome
is named after Hans
Zellweger,a former
professor
of Pediatrics and Gene
tics at the University
of Iowa who
researched
this disroder.
Zellweger syndrome
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A rare, congenital disorder
A lethal condition1:25000
Autosomal recessive
Reduction or absence of
functional peroxisomes
• PEX 1,2,5,7,10,12 and 16
peroxisome
Peroxisome is a
small cellular
organelles
containing
multiple
compounds that
are essential
for normal
growth and
development.
peroxisome
With a diameter
of 0.1 to 1.0 um.
Contains a
dense,crystalline
core of oxidative
enzymes.
Contains more
than 50 enzymes.
Functions of the enzymes
• The oxidation of
very-long-chain
fatty acids.
• The synthesis of
plasmalogens.
• The enzyme
luciferase.
disorders
• 2 categories:
• single peroxisomal enzyme
deficiencies
• peroxisomal biogenesis disorders
(PBDs).
Causes
Peroxisomes doesn’t have the enzymes
they are supposed to have.
↑
The enzymes fail to be imported into
the
peroxisomes.
syndromes
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Facial problems
Vision disturbances
Brain damages
An enlarged liver
High levels of iron
and copper in the
blood