This is an X-linked recessive disorder resulting in the accumulation of long-chain fatty acid esters of cholesterol.
Patients have adrenal insufficiency.
There are two forms of adrenoleukodystrophy:
- juvenile form, which begins before age 12, and is associated with progressive deterioration, to death in 3-5 years
- adult form, in which there is a slowly progressing spastic paraparesis and peripheral neuropathy, cerebellar ataxia, dementia and hypogonadism