Endocrine Abstracts

Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare, sometimes devastating disorder caused by-mainly inherited- mutations in the ABCD1 gene. Cerebral X-ALD can be prevented or modified if diagnosed presymptomatically. Mutation can lead to very long chain fatty acid (VLCFA) accumulation in adrenocortical cells, which can cause antibody negative primary Addison’s disease (ANPAD). There are recommendations that all males affected by ANPAD should have VLCFA analysis. W...