Adrenoleukodystrophy

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Abstract
SUMMARY: Adrenoleukodystrophy (ALD) is an X-linked degenerative disease characterized by progressive demyelination and adrenal insufficiency. Several phenotypes are described. In post-mortem tissues there is an accumulation of saturated or mono-unsaturated very long chain fattyacids (VLCFA) in the cholesterol ester fraction of adrenal cortex and cerebral white matter. The accumulated fatty acids are unbranched with carbon chain length between 23 and 32 with most containing 25 or 26 carbons. Determination of VLCFA in readily accessible tissues such as skin fibroblasts and plasma allows for reliable detection of patients and carriers.