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X-linked adrenoleukodystrophy

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X-linked adrenoleukodystrophy
An X-R peroxisomal disease due to a defective gene on chromosome Xq28, characterized by impaired degradation of saturated very long chain fatty acids–VLCFAs that accumulate with the cholesterol ester and gangliosides in the CNS, adrenal glands, plasma cells, leukocytes, causing progressive multifocal demyelination Clinical Variable; often first seen in childhood with major neurologic deterioration and death in a few yrs Management Modifications in lipid intake may normalize VLCFA levels, the long-term effects of which are unknown, BMT. See Lorenzo's oil.


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The boys, both seven when treatment began in France, are beset with X-linked adrenoleukodystrophy, or ALD, a hereditary brain disease that slowly strips away layers of fatty acids protecting nerve fibres in the brain.
 
 
 
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