Abstract
This chapter focuses on adrenoleukodystrophy (ALD), which is a genetically determined disorder associated with progressive demyelination and adrenal cortical insufficiency. ALD is expressed clinically by varying combinations of dysfunction in the central and peripheral nervous systems, and in the endocrine system. The biochemical testing for ALD seems appropriate for all newly diagnosed males with Addison's disease to discover those that may be manifestations of ALD. Routine X-rays of the skull are normal. Electroencephalograms demonstrate frequency slowing and amplitude reduction maximal in the parietooccipital region in typical childhood ALD. The accumulation of saturated unbranched very long chain fatty acids, particularly hexacosanoate (C26:0), has been demonstrated in all ALD patients and is nearly unique for this disorder.
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