by Alexander Kurz Adrenoleukodystrophy (ALD) is an X-chromosomal
recessive disorder which leads to adrenal gland dysfunction. The
disease is characterised by an abnormal storage of very long
chain fatty acids (VLCFA) in myelin and in almost all cells of
the body. A variant of ALD is adrenomyeloneuropathy (AMN) in
which the spinal cord and peripheral nerves are mainly affected,
resulting in spastic paraparesis, sensory abnormalities in the
legs, and bladder or anal sphincter dysfunction. Symptoms and
course The adult variant of ALD becomes manifest at the age of
28 to 30 years. Clinical features include behavioural disorders,
psychotic symptoms, impaired sexual function, ataxia,
psudobulbar symptoms, progressive dyskinesia or polyneuropathy.
Psychiatric and neurological symptoms are accompanied by adrenal
gland dysfunction (fatigue, intermittend vomiting, arterial
hypotension, hyperpigmentation of the skin) and hypogonadism.
Causes and risk factors ALD is caused by mutations in the ABCD1
gene (Xq28), which enc