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A brief description of X-ALD and its pathogenesis

Timothy John Dizon

on 20 February 2011

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Transcript of X-ALD

What is X-ALD? X-linked Adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disease that mostly affects males.
It is characterized by three main symptoms
adrenal insufficiency
neuron demyelination
testicular dysfunction (Takahasi et al. 2007).
X-ALD is biochemically characterized by increased Very-long chain fatty acids (VLCFA; C22) levels in blood (Hein et al. 2008).
ABCD 1 Gene has 10 exons ABCD 1 Gene is located at the "Q" arm of the X chromosome: Xq28 It is primarily caused by a mutation on the ABCD1 gene which encodes for the ALDP protein Cytosol Peroxisomal Matrix PEROXISOME ALDP Protein VLCFAs are exclusively processed in peroxisomes in humans Failure in part of the ALDP leads to the accumulation of VLCFA in the body. High levels of VLCFA becomes toxic specially to brain cells leading to demyelination.
The main culprit for X-ALD
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