Article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Orphanet journal of rare diseases - 13 Aug 2012
Engelen Marc, Kemp Stephan, de Visser Marianne, van Geel Björn M, Wanders Ronald J A, Aubourg Patrick, Poll-The Bwee Tien
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids (VLCFA; ≥ C22). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. The clinical spectrum in males with X-ALD ranges from...
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