Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism which is characterized by an accumulation of saturated very long chain fatty acids. Fatty acid accumulation is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. At least six phenotypes have been distinguished, of which the two most frequent are childhood-cerebral ALD and adrenomyeloneuropathy (AMN). The X-ALD gene was identified and mapped to Xq28. Initially, only men were thought to be affected by the disease, but it is now recognized that female carriers are also at risk for X-ALD.