Article
Endocrine dysfunction in adrenoleukodystrophy.
Handbook of clinical neurology - 1 Jan 2021
Engelen Marc, Kemp Stephan, Eichler Florian
Abstract excerpt
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene and characterized by impaired very long-chain fatty acid beta-oxidation. Clinically, male patients develop adrenal failure and a progressive myelopathy in adulthood, although age of onset and rate of progression are highly variable. Additionally, 40% of male patients develop a leukodystrophy (cerebral ALD) before...
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