Leriglitazone: frustration and hope in adrenoleukodystrophy

Abstract

X-linked adrenoleukodystrophy is a rare disease caused by loss of function mutations in the ABCD1 gene. The clinical spectrum in males ranges from adrenocortical insufficiency (Addison's disease) to myeloneuropathy, with prominent spastic gait and bladder disturbance, and to cerebral leukodystrophy, often resulting in rapidly progressive dementia and disability.1 ABCD1 encodes the peroxisomal membrane adrenoleukodystrophy protein, which is involved in the transmembrane transport and beta-oxidation of very long-chain fatty acids (VLCFAs).