X-linked adrenoleukodystrophy: pathogenesis and treatment.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (X-ALD ) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum . All patients have mutations in the ABCD 1 gene and accumulate very long chain fatty acids in all tissues . Virtually all male X-ALD patients develop adrenocortical insufficiency in childhood and progressive myelopathy and peripheral neuropathy in adulthood . A subset of male patients , however , develops a fatal cerebral demyelinating disease , cerebral adrenoleukodystrophy . Female patients also develop progressive myelopathy and peripheral neuropathy , but generally at a later age than males . They only very rarely develop adrenocortical insufficiency or cerebral adrenoleukodystrophy . This review proposes to simplify the classification of the clinical spectrum of X-ALD and reviews the largely unresolved pathophysiological mechanisms and the current treatment options .