Zellweger's Syndrome
Zellweger's Syndrome
is characterized by an individual's inability to
beta-oxidize
very-long chain
fatty acids
in the
peroxisomes
of the cell, due to a
genetic disorder
in the gene coding for
Pex2
. Named after Hans Zellweger, a former professor of Pediatrics & Genetics at the
University of Iowa
who did research into the disease, it is also called cerebrohepatorenal syndrome. VL chain fatty acids are generally found in the
central nervous system
(
brain
and
spinal cord
) and the peroxisomes of these cells cannot import the necessary
degrative proteins
for B-oxidation to occur.
Symptoms
are often exhibited at around 1 to 2 years of age. If left untreated Zellweger's Syndrome can lead to major
mental retardation
and death.
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