Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth prevalence of 1 in 15.000 newborns. Adrenoleukodystrophy is a progressive metabolic disorder that affects brain, spinal cord, peripheral nerves, adrenal cortex and testis. For a comprehensive summary and video, please visit the “facts on adrenoleukodystrophy” page.
Adrenoleukodystrophy is caused by mutations in the ABCD1 gene. Since the identification of the ABCD1 gene in 1993, more than 800 unique disease-causing mutations have been identified. Published (and unpublished) adrenoleukodystrophy mutations, as well as benign variants, are collected in the ALD Mutation Database.