Adrenoleukodystrophy causes: Difference between revisions
Irfan Dotani (talk | contribs) No edit summary |
Ibtisamshrf (talk | contribs) |
||
| Line 6: | Line 6: | ||
==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. 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 | ||
Revision as of 14:52, 29 June 2020
|
Adrenoleukodystrophy Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Adrenoleukodystrophy causes On the Web |
|
American Roentgen Ray Society Images of Adrenoleukodystrophy causes |
|
Risk calculators and risk factors for Adrenoleukodystrophy causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
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. 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