X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes

  title={X-Linked Adrenoleukodystrophy: Genes, Mutations, and Phenotypes},
  author={Kirby D. Smith and Stephan Kemp and Lelita T. Braiterman and Jyh-Feng Lu and H Wei and Michael Geraghty and Gail Stetten and James Bergin and Jonathan Pevsner and Paul A. Watkins},
  journal={Neurochemical Research},
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, site of initial pathology and rate of progression. In addition, the abnormal gene in… CONTINUE READING


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