Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy
Authors:
Open Access
- 1 May 2017
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA Neurology
- Vol. 74 (5) , 519-524
Abstract
X-linked adrenoleukodystrophy (ALD) is a rare progressive neurometabolic disorder with an incidence of 1 in 17 000.1 The underlying mutations are located in the ABCD1 gene, which encodes a peroxisomal membrane protein associated with very-long-chain fatty acid (VLCFA) metabolism. The ALD protein putatively transports the coenzyme A derivatives of VLCFA, allowing for VLCFA degradation.2,3 Dysfunction of the ALD protein results in VLCFA accumulation, which is seen in the nervous system of all ALD phenotypes, including female carriers. In affected males, accumulation is additionally seen in adrenal glands, testes, and blood irrespective of mutation.Keywords
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