This is a peroxisomal disorder of very-long-chain fatty acid (VLCF) metabolism that leads to progressive neurological and adrenal dysfunction from accumulation of VLCFAs in the nervous system, adrenal glands, and testes. The age of onset and clinical course are highly variable and there may be several forms. The childhood form begins between the ages of 4 and 8 years but in other patients with the adult form, symptoms may not appear until the third decade of life. A viral illness may precipitate the onset. Symptoms of both central and peripheral neurologic disease are often present with cognitive problems, ataxia, spasticity, aphasia, and loss of fine motor control. Hearing loss is seen in some patients. Younger patients tend to have more behavioral problems while older individuals may develop dementia.
Adrenal insufficiency leads to skin hyperpigmentation, weakness, loss of muscle mass and eventually coma. Impotence in males is common.