Article
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Human mutation - 1 Jan 2000
Lachtermacher M B, Seuánez H N, Moser A B, Moser H W, Smith K D
Abstract excerpt
X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It mainly involves the nervous system white matter, adrenal cortex and testes. Several distinct clinical phenotypes are known. The principal biochemical abnormality is the accumulation of saturated very-long-chain fatty acids (VLCFAs : > C22:0, mainly C26:0), which is due to impaired capacity for beta-oxidation in peroxisomes....
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