Adrenoleukodystrophy

Definition

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.

Also known as ABCD1 deficiency, adrenoleukodystrophy, adrenoleukodystrophy, X-linked, adrenoleukodystrophy, X-linked recessive, adrenomyeloneuropathy, adult, adrenomyeloneuropathy, adult, X-linked recessive, ALD, Bronze-Schilder disease, diffuse cerebral sclerosis of Schilder, Siemerling-Creutzfeldt disease, X-ALD, X-Linked Adrenoleukodystrophy, X-linked ALD — per MONDO

Also identified as

• DOID 10588 per MONDO
• MESH D000326 per MONDO
• NCIT C61252 per MONDO
• OMIM 300100 per MONDO
• Orphanet 43 per MONDO
• UMLS C0162309 per MONDO

Affected Organs

Drugs indicated