Alternative titles and symbols : Addison disease and cerebral sclerosis; Siemerling-creutzfeldt disease; Bronze schilder disease; Melanodermic leukodystrophy; X-ALD;
Included titles and symbols : Adrenomyeloneuropathy; AMN;
Description : Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the
ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the
accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of
the body. The manifestations of the disorder occur primarily in the adrenal cortex,
the myelin of the central nervous system, and the Leydig cells of the testes.;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily D, member 1 gene (ABCD1,
300371.0001);
Laboratory abnormalities : Systemic accumulation of very long chain fatty acids (VLCFA);