Adrenoleukodystrophy

Definition:

Adrenoleukodystrophy (ALD) is an X-linked disorder caused by mutation in the ABCD1 gene that encodes ABCD1/ALDP, a peroxisomal ABC transporter. ALD is biochemically characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in tissues such as adrenal cortex and white matter of central nervous system. The phenotypes can be subdivided into four main categories: Childhood cerebral adrenoleukodystrophy (CCALD), adrenomyeloneuropathy (AMN), Addison-only ALD, and asymptomatic ALD. This disorder is characterized by progressive behavioral, cognitive and neurologic deficit.

References:

[1]. Hugo Moser, et al. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol. 2004 Jun;17(3):263-9. [Content Brief]

[2]. Hugo W Moser, et al. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007 Mar;3(3):140-51. [Content Brief]

[3]. Stephan Kemp, et al. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment. Mol Genet Metab. 2007 Mar;90(3):268-76. [Content Brief]

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