Adrenoleukodystrophy causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
X-linked adrenoleukodystrophy (X-ALD) is a monogenic disease caused by mutations in the ABCD1 gene located on Xq28. It is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity.
Causes
Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20,000 people from all races.
The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are different types of ALD, with a range of symptoms and differing ages of onset, but the underlying cause of the disease is the same in each type: a mutation, or a change, in the ABCD1 gene. [1] There are three major categories of disease:
- Childhood cerebral form -- appears in mid-childhood (at ages 4 - 8)
- Adrenomyelopathy -- occurs in men in their 20s or later in life
- Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones
References
- ↑ Wiesinger C, Eichler FS, Berger J (2015). "The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis". Appl Clin Genet. 8: 109–21. doi:10.2147/TACG.S49590. PMC 4427263. PMID 25999754.