Article
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Neurochemical research - 1 Apr 1999
Smith K D, Kemp S, Braiterman L T, Lu J F, Wei H M, Geraghty M, Stetten G, Bergin J S, Pevsner J, Watkins P A
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain fatty acids in tissues and plasma, and the biochemical defect, reduced peroxisomal very long-chain acyl-CoA synthetase (VLCS) activity, are ubiquitous features of the disease. However, clinical manifestations are highly variable with regard to time of onset,...
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