Adrenoleukodystrophy

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