Adrenoleukodystrophy is a disease linked to the X chromosome that results from the buildup of very long chain fatty acids, which damages the nervous system, adrenal glands and testicular cells. Mutations in the ABCD1 gene prevent proper transport of these fatty acids into peroxisomes for breakdown, and the accumulation particularly harms the myelin sheath in the central nervous system, the adrenal cortex and Leydig cells in the testes. Symptoms include seizures, hyperactivity, and speech and hearing difficulties, and depending on the type patients may experience progressive brain degeneration, muscle stiffness, sexual dysfunction or hormonal insufficiency. The Wikipedia lead does not state when the condition was first described or by whom; that history is an honest gap for later research.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Sources
1. Adrenoleukodystrophy (Wikipedia)
Wikipedia intro: ALD: X-linked disease, myelin CNS most affected, 'caused by mutations in ABCD1'View the Source 2. Wikidata: Adrenoleukodystrophy
- Wikidata Q366964, class allow-list match (w-wdresolver-0926)
- Wikidata P494 (E71.3)
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