Overview
Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) is a type of hereditary (genetic) condition that damages the membrane (myelin sheath) that insulates nerve cells in your brain.
In adrenoleukodystrophy (ALD), your body can't break down very long-chain fatty acids (VLCFAs), causing saturated VLCFAs to build up in your brain, nervous system and adrenal gland.
The most common type of ALD is X-linked ALD, which is caused by a genetic defect on the X chromosome. X-linked ALD affects males more severely than females, who carry the disease.
Forms of X-linked ALD include:
- Childhood-onset ALD. This form of X-linked ALD usually occurs between ages 4 and 10. The white matter of the brain is progressively damaged (leukodystrophy), and symptoms worsen over time. If not diagnosed early, childhood-onset ALD may lead to death within five to 10 years.
- Addison's disease. Hormone-producing glands (adrenal glands) often fail to produce enough steroids (adrenal insufficiency) in people who have ALD, causing a form of X-linked ALD known as Addison's disease.
- Adrenomyeloneuropathy. This adult-onset form of X-linked ALD is a less severe and slowly progressive form that causes symptoms such as a stiff gait and bladder and bowel dysfunction. Women who are carriers for ALD may develop a mild form of adrenomyeloneuropathy.
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Feb. 07, 2020
- Adrenoleukodystrophy information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Adrenoleukodystrophy-Information-Page. Accessed Sept. 26, 2017.
- National Library of Medicine. X-linked adrenoleukodystrophy. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy. Accessed Sept. 26, 2017.
- Kliegman RM, et al. Adrenocortical insufficiency. In: Nelson Textbook of Pediatrics. 20th ed. Philadelphia, Pa.: ElsevierĶ¾ 2016. https://www.clinicalkey.com. Accessed Sept. 26, 2017.
- Tran C, et al. Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study. European Journal of Paediatric Neurology. 2017;21:600.
- Wanders RJ, et al. Adrenoleukodystrophy. https://www.uptodate.com/contents/search. Accessed Sept. 27, 2017.
- Riggin EA. Allscripts EPSi. Mayo Clinic, Rochester, Minn. July 20, 2017.
- Eichler F, et al. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. The New England Journal of Medicine. In press. Accessed Oct. 22, 2017.
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