Adrenoleukodystrophy causes: Difference between revisions

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==Overview==
==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 [[Genetic carrier|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==
==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 [[Genetic carrier|carriers]] can have milder forms of the [[disease]]. It affects approximately 1 in 20,000 people from all races.
[[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 [[Genetic carrier|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 three major categories of [[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. 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. <ref name="pmid25999754">{{cite journal| author=Wiesinger C, Eichler FS, Berger J| title=The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. | journal=Appl Clin Genet | year= 2015 | volume= 8 | issue=  | pages= 109-21 | pmid=25999754 | doi=10.2147/TACG.S49590 | pmc=4427263 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25999754  }}</ref> There are three major categories of [[disease]]:
*Childhood [[cerebral]] form -- appears in mid-childhood (at ages 4 - 8)
*Childhood [[cerebral]] form -- appears in mid-childhood (at ages 4 - 8)
*Adrenomyelopathy -- occurs in men in their 20s or later in life
*Adrenomyelopathy -- occurs in men in their 20s or later in life

Latest revision as of 14:55, 29 June 2020

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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:

References

  1. 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.

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