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Adrenoleukodystrophy (ALD) falls into a group of disorders known as leukodystrophies. This disease is diagnosed with a plasma test to determine the level of very long chain fatty acids, regardless of symptomatology. It is a very specialized test, so it is only performed in a few laboratories worldwide. These very long chain fatty acids accumulate, due to absence of peroxisomes in the liver, and damage the ability of the adrenal gland to convert cholesterol to steroid hormones. The characteristic of the disease is progressive cognitive and behavioral impairment. This impairment is due to the myelin degeneration that occurs within these patients' central nervous system. Without the myelin sheath, nerve fibers are damaged and cease to function properly. |
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| Click the above graphic to hear the pronunciation of the disease. When prompted, choose 'open from current location.' | ||
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The figure above shows the location of the Adrenoleukodystrophy gene on the x chromosome. It was borrowed from http://www.ncbi.nlm.nih.gov/ disease/chr21-Y.html and modified in MS Paint v98 by the Microsoft Corporation.
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This page created by: Jennifer Butt
