Formerly known as Schilder’s disease; a rare, X-linked recessive metabolic disorder occurring in boys, characterized by adrenal atrophy and widespread, diffuse cerebral demyelination. It produces DEMENTIA, corticospinal tract dysfunction, and cortical blindness.
An inherited disorder of the adrenal glands in boys.
Adrenoleukodystrophy is an inherited, serious, progressive neurological disorder effecting the adrenal gland and white matter of the nervous system. The defective gene is located within the Xq28 region and is inherited in an X-linked, recessive fashion; only males demonstrate the classic disease. The biochemical defect, an abnormal accumulation of very long chain fatty acids is common to all forms of the disease, although there are multiple presentation (phenotypes) of the disorder.
An X-linked recessive disease in which inability to metabolize very long chain fatty acids results in inflammatory demyelination of nerves and adrenal failure (Addison’s disease). Treatments in elude replacement of adrenal hormones, administration of Lorenzo’s oil, or bone marrow transplantation.