Childhood-onset cerebral adrenoleukodystrophy

Common Name(s)

Childhood-onset cerebral adrenoleukodystrophy

Childhood-onset cerebral adrenoleukodystrophy (cALD) is a rare X-linked, genetic disorder, affecting boys between 4-10 years old. cALD is caused by a buildup of very long chain fatty acids (VLCFAs). This buildup damages the fatty covering of the nerve and brain cells (myelin). When myelin breaks down, the nervous system has a hard time sending messages. The first symptom of cALD is usually behavior changes like hyperactivity. Symptoms may progress to deafness, blindness, seizures, and loss of muscle control. Excess VLCFAs may also damage the adrenal glands. These glands make hormones which help balance sugar and salt levels, and our body response to infection, surgery and injury. The damaged adrenal glands don’t make enough of the hormones (adrenocortical insufficiency or Addison’s disease) causing weakness, weight loss, skin changes and vomiting.

ALD is caused by a mutation (change) in the ABCD1 gene. This gene makes the ALD protein (ALDP). ALDP helps the peroxisome (small sacs in each of our cells) break down VLCFAs. If there is not enough ALDP, the VCFA’s are not broken down and instead build up. ALD is the most common type of peroxisomal disorder.

Diagnosis is confirmed by genetic and medical testing. In the past, boys with cALD passed away within a few years of symptoms. But there is now an effective treatment if the changes to myelin in the brain are found before physical symptoms begin. This requires a special brain scan (MRI) to be performed every 6-12 months. Blood tests will be used to check the adrenal gland. Many babies are screened for ALD at birth, but newborn screening conditions vary by state. For more information, visit Baby’s First Test. Research is ongoing, so talk with your child’s doctor about current treatment options. Genetic counselors and support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Childhood-onset cerebral adrenoleukodystrophy" 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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United Leukodystrophy Foundation, Inc.

The United Leukodystrophy Foundation serves individuals and families affected by leukodystrophy by exchanging information and promoting progress on research, treatment and prevention.

Last Updated: 20 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Childhood-onset cerebral adrenoleukodystrophy" 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
United Leukodystrophy Foundation, Inc.

The United Leukodystrophy Foundation serves individuals and families affected by leukodystrophy by exchanging information and promoting progress on research, treatment and prevention.

http://www.ulf.org

Last Updated: 20 Jul 2015

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 "Childhood-onset cerebral adrenoleukodystrophy" 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 "Childhood-onset cerebral adrenoleukodystrophy" 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.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.