Adrenoleukodystrophy

Common Name(s)

Adrenoleukodystrophy, ALD

Adrenoleukodystrophy (ALD) is a genetic condition that affects the nervous system (brain and other nerve cells) and adrenal glands (small glands located on top of the kidneys). The disease, which is due to an abnormal build up of very long chain fatty acids throughout body tissues, causes damage to both the fatty covering of the nerve and brain cells (myelin) as well as the outer layer of the adrenal glands. Myelin damage causes abnormal communication between the nerve cells and the brain, which can lead to difficulty with learning, behavior and coordination. Adrenal gland damage causes a low amount of hormones in the blood, which can lead to weakness, weight loss, skin changes, vomiting and coma.

There are three forms of ALD that vary in terms of symptom onset and severity. Symptoms of the childhood cerebral form of ALD, which presents in mid-childhood, can include changes in muscle tone, crossed eyes, loss of skills, poor communication, hearing loss, seizures and difficulty swallowing. Symptoms of the adrenomyeloneuropathy form of ALD, which typically presents in the mid twenties, include problems with muscle stiffness and weakness, behavioral abnormalities, and difficulty controlling urination. The third form of ALD, known as Addison’s disease, is associated only with symptoms associated with adrenal gland insufficiency.

ALD is seen most commonly in males because it is caused by mutations (changes) in the ABCD1 gene, which is located on the X chromosome. Males only have one copy of the X chromosome, which means they only have one copy of the ABCD1 gene. A mutation in their ABCD1 gene copy causes the disease. Females have two X chromosomes, which means they have two copies of the ABCD1 gene. A mutation in one copy is typically not enough to cause the disease in females, though some females may show mild symptoms. Consult a doctor, as treatment options vary depending on severity of the disease.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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

View Details
The Stop ALD Foundation

The Stop ALD Foundation funds innovative new research to jump-start the process of developing new knowledge and new therapies, which must often proceed at an excruciatingly slow pace when only funded by government sources. We also work to educate the medical profession and the public about ALD, raising awareness in order to improve detection, diagnosis and treatment.

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.

Last Updated: 20 May 2015

View Details
Logo
National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

Last Updated: 13 Oct 2014

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

View Details
The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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
The Stop ALD Foundation

The Stop ALD Foundation funds innovative new research to jump-start the process of developing new knowledge and new therapies, which must often proceed at an excruciatingly slow pace when only funded by government sources. We also work to educate the medical profession and the public about ALD, raising awareness in order to improve detection, diagnosis and treatment.

http://www.stopald.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
Logo
National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

http://www.nadf.us

Last Updated: 13 Oct 2014

View Details
Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details
The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Go To URL
 
 
Top

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" returned 162 free, full-text research articles on human participants. First 3 results:

Childhood cerebral adrenoleukodystrophy.
 

Author(s): Aliza Mittal, Kailash Chandra Aggarwal

Journal: Indian J. Med. Res.. 2014 Aug;140(2):319-20.

 

Last Updated: 9 Oct 2014

Go To URL
Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.
 

Author(s): Joon Won Kang, Sang Mi Lee, Kyo Yeon Koo, Young-Mock Lee, Hyo Suk Nam, Zhejiu Quan, Hoon-Chul Kang

Journal: Yonsei Med. J.. 2014 Jul;55(4):1157-60.

 

X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the ...

Last Updated: 23 Jun 2014

Go To URL
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
 

Author(s): Olga Karapanou, Barbara Vlassopoulou, Marinella Tzanela, Dimitrios Papadopoulos, Panagiotis Angelidakis, Helen Michelakakis, George Ioannidis, Markos Mihalatos, Smaragda Kamakari, Stylianos Tsagarakis

Journal: Hormones (Athens). ;13(1):146-52.

 

We present the clinical and hormonal findings of a young male with X-linked adrenoleukodystrophy (X-ALD), with special emphasis on the biochemical and clinical pattern of hypogonadism. A patient, with primary adrenal insufficiency since the age of 5 years, developed progressive neurological ...

Last Updated: 11 Apr 2014

Go To URL

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" returned 12 free, full-text review articles on human participants. First 3 results:

Pathophysiology of X-linked adrenoleukodystrophy.
 

Author(s): J Berger, S Forss-Petter, F S Eichler

Journal: Biochimie. 2014 Mar;98():135-42.

 

Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy (X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-ALD are mutations in the gene encoding the peroxisomal ATP-binding cassette (ABC) transporter, ABCD1 ...

Last Updated: 3 Feb 2014

Go To URL
[Peroxisomal ABC transporters and X-linked adrenoleukodystrophy].
 

Author(s): Flore Geillon, Doriane Trompier, Catherine Gondcaille, Gérard Lizard, Stéphane Savary

Journal: Med Sci (Paris). 2012 Dec;28(12):1087-94.

 

X-linked adrenoleukodystrophy (X-ALD) is a complex neurodegenerative disease associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ABC transporter. Thanks to the efforts of the ELA foundation and to the recent successes of gene therapy published in Science in ...

Last Updated: 7 Jan 2013

Go To URL
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
 

Author(s): Stephan Kemp, Johannes Berger, Patrick Aubourg

Journal: Biochim. Biophys. Acta. 2012 Sep;1822(9):1465-74.

 

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop ...

Last Updated: 23 Jul 2012

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
 

Status: Available

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 3 Sep 2014

Go to URL
MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
 

Status: Not yet recruiting

Condition Summary: Cerebral Adrenoleukodystrophy

 

Last Updated: 1 Apr 2015

Go to URL
Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy

 

Last Updated: 6 Feb 2009

Go to URL