Contributor: Gordon K. Klintworth
The adrenoleukodystrophies are rare inherited disorders characterized by mental and neurologic deterioration due to a diffuse paucity of myelin within the central nervous system and atrophic, hypofunctional adrenal glands. Three variants of the adrenoleukodystrophies are recognized (neonatal adrenoleukodystrophy [adrenoleukodystrophy - neonatal], childhood adrenoleukodystrophy [adrenoleukodystrophy - childhood] and adrenomyeloneuropathy). The pathologic changes are comparable in these variants and the biochemical alterations have similarities but are due to defects in different genes involved in VLCFA metabolism. A progressive visual loss secondary to bilateral optic atrophy or cortical blindness  develop early in the neonatal and childhood variants of the adrenoleukodystrophies and proceeds within months to no light perception. The adrenoleukodystrophies were once thought to be inherited lipid storage diseases caused by an error in membrane sterol metabolism.