X-linked adrenoleukodystrophy

  title={X-linked adrenoleukodystrophy},
  author={Hugo W. Moser and Asif Mahmood and G V Raymond},
  journal={Nature Clinical Practice Neurology},
X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. X-ALD is panethnic and affects approximately 1:20,000 males. Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic… CONTINUE READING
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