(ABCD1) Adrenoleukodystrophy
• Cell line state: affected (1801 del AG)
• Defects in ABCD1 are the cause of adrenoleukodystrophy X-linked (X-ALD)
a peroxisomal metabolic disorder characterized by progressive multifocal demyelination
of the central nervous system and by peripheral adrenal insufficiency (Addison
disease). It results in mental deterioration, corticospinal tract dysfunction,
and cortical blindness. Different clinical manifestations exist like: cerebral
childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN)
and "Addison disease only" (ADO) phenotype.