X-linked adrenoleukodystrophy (ALD) is a rare disorder that makes it hard for the body to break down fatty acids. This results in a buildup in the brain and the adrenal cortex. This causes damage to the myelin sheath in the brain and adrenal gland.
ALD often causes death 10 years after symptoms start.
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There are 6 subtypes:
ALD is caused by a faulty gene.
The risk of this problem is higher in people who have other family members with ALD.
Symptoms differ within the types of ALD.
This form is the most severe. It is only in boys. Symptoms start between 2 to 10 years of age and get worse over time. Boys may have:
This type is the childhood type. It starts at 11 to 21 years of age. It happens more slowly.
This is the most common type. Symptoms can start when a person is in their 20s. It slowly gets worse. Problems may be:
This form is only seen in women. Symptoms may be mild or severe. It usually does not affect adrenal gland function.
You will be asked about your symptoms and health history. A physical exam will be done.
Blood tests and genetic tests may be done.
There is no cure for brain damage from ALD. The goal of treatment is to manage symptoms. Choices are:
Boys with cerebral ALD may be given a stem cell transplant. This provides healthy stem cells that make the protein that their stem cells are lacking.
There are no known ways to prevent this health problem.
National Institute of Neurological Disorders and Stroke
United Leukodystrophy Foundation
The Myelin Project of Canada
Adrenoleukodystrophy in children. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/adrenoleukodystrophy-in-children. Accessed November 2, 2020.
Adrenoleukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Adrenoleukodystrophy-Information-Page. Accessed November 2, 2020.
Steinberg SJ, Moser AB, et al. X-Linked Adrenoleukodystrophy. GeneReviews 2015 Apr 9.
Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD Last Updated: 5/12/2021