Adrenoleukodystrophy X-Linked*del

Common Name(s)

Adrenoleukodystrophy X-Linked*del

X-linked adrenoleukodystrophy (X-ALD) is an inherited condition that occurs mostly in males.  The condition mainly affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disorder often have progressive destruction of the fatty covering (myelin) that insulates nerves in the brain and spinal cord. They may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex), called adrenocortical insufficiency.  X-ALD is caused by mutations in the ABCD1 gene. These gene mutations cause a shortage (deficiency) of a protein called adrenoleukodystrophy protein (ALDP).  A deficiency of this protein leads to an abnormally high level of fat molecules called very long-chain fatty acids (VLCFA) to build up in the body.  High levels of VLCFA may be toxic to the adrenal cortex and myelin.  

There are several forms of X-ALD including: a childhood cerebral form, an adrenomyeloneuropathy (AMN) type, and an adrenal insufficiency-only type. Another form of ALD is occasionally seen in women who are carriers of the condition A specific treatment for X-ALD is not currently available, but eating a diet low in VLCFA and taking special oils can lower the blood levels of VLCFA. Bone marrow transplantation (BMT) may be an option for boys and adolescents in early stages who have evidence of brain involvement on MRI.   Adrenocortical insufficiency is treated with cortisone replacement.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenoleukodystrophy X-Linked*del" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

Last Updated: 16 Apr 2015

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Fight ALD

Our mission is to save the lives of our boys by bringing about awareness through education--to our community and medical professionals--about the early onset symptoms of X-ALD (Adrenoleukodystrophy), the simple diagnostic blood test, and treatments. We also have information about the adult onset, AMN (Adrenomyeloneuropathy). Our current goal is to get ALD newborn screening added to the Recommended Uniform Screening Panel (RUSP) to allow for early diagnosis and life saving interventive treatment for all at risk babies in the US.

Last Updated: 20 May 2015

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The Myelin Project

We are an international 501(c)(3) non-profit organization funding medical research and raising awareness for rare brain diseases.

Last Updated: 13 Nov 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenoleukodystrophy X-Linked*del" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

http://www.aldlife.org

Last Updated: 16 Apr 2015

View Details
Fight ALD

Our mission is to save the lives of our boys by bringing about awareness through education--to our community and medical professionals--about the early onset symptoms of X-ALD (Adrenoleukodystrophy), the simple diagnostic blood test, and treatments. We also have information about the adult onset, AMN (Adrenomyeloneuropathy). Our current goal is to get ALD newborn screening added to the Recommended Uniform Screening Panel (RUSP) to allow for early diagnosis and life saving interventive treatment for all at risk babies in the US.

http://www.fightald.org

Last Updated: 20 May 2015

View Details
The Myelin Project

We are an international 501(c)(3) non-profit organization funding medical research and raising awareness for rare brain diseases.

http://www.myelin.org

Last Updated: 13 Nov 2012

View Details

 

General Support Organizations

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General Resources

ALD-AMN Route Map

A dedicated website for providing patients and families affected by Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) a journey of their health and social care needs.

Uploaded By: ALD Life

Updated 4 Apr 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Adrenoleukodystrophy X-Linked*del" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adrenoleukodystrophy X-Linked*del" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.