ESPE Abstracts

Introduction: Adrenoleukodystrophy (ALD) is a rare X- linked disease caused by a mutation of the peroxisomal ABCD1gene. It is a progressive condition with a variable clinical spectrum that includes primary adrenal insufficiency, axonal demyelination and the accumulation of high levels of very long chain fatty acids (VLCFA) in the plasma and tissues.Methods: It’s a retrospective study of all cases of X-linked ALD who...