Introduction

X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1 in 15.000 newborns. It is a progressive, “inborn error of metabolism” that affects brain, spinal cord, peripheral nerves, adrenal cortex and testis. ALD is caused by mutations in the ABCD1 gene. For a comprehensive summary, please visit the Facts on ALD page.
More than 800 unique mutations have been identified, which are collected in the ALD Mutation Database (a part of ALD info).