Adrenoleukodystrophy causes: Difference between revisions
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{{Adrenoleukodystrophy}} | {{Adrenoleukodystrophy}} | ||
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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 | ||
*Impaired [[adrenal gland]] function (called [[Addison disease]] or Addison-like [[phenotype]]) -- [[adrenal gland]] does not produce enough [[steroid hormones]] | *Impaired [[adrenal gland]] function (called [[Addison disease]] or Addison-like [[phenotype]]) -- [[adrenal gland]] does not produce enough [[steroid hormones]] | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Endocrinology]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 14:55, 29 June 2020
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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.