Adrenoleukodystrophy

Common Name(s)

Adrenoleukodystrophy

Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes. ABCD1 is an ATPase binding cassette protein in the same category of transporter proteins such as the CFTR and MDR proteins. Identification of X-ALD as a lipid-storage disease, as a defect in the capacity to degrade VLCFAs, and its characterization as a peroxisomal disorder was reviewed by {88:Moser (1997)}. {97:Moser et al. (2005)} provided a clinical review of ALD.
 

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: 9 Apr 2014

View Details
Logo
CNS Foundation

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

Last Updated: 12 Oct 2013

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).

Last Updated: 4 Oct 2012

View Details
The Cochrane Collaboration

The Cochrane Collaboration consists of a team of people who are interested in producing high quality systematic reviews of controlled clinical trials in cystic fibrosis (CF) and other genetic disorders.

Last Updated: 2 Dec 2009

View Details
The Stennis Foundation

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

Last Updated: 14 Jan 2013

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: 31 Mar 2013

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: 9 Apr 2014

View Details
Logo
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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).

http://www.fightald.org

Last Updated: 4 Oct 2012

View Details
The Cochrane Collaboration

The Cochrane Collaboration consists of a team of people who are interested in producing high quality systematic reviews of controlled clinical trials in cystic fibrosis (CF) and other genetic disorders.

http://cfgd.cochrane.org

Last Updated: 2 Dec 2009

View Details
The Stennis Foundation

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

http://www.stennisfoundation.org

Last Updated: 14 Jan 2013

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: 31 Mar 2013

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 153 free, full-text research articles on human participants. First 3 results:

Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
 

Author(s): Sara Petrillo, Fiorella Piemonte, Anna Pastore, Giulia Tozzi, Chiara Aiello, Aurora Pujol, Marco Cappa, Enrico Bertini

Journal: Mol. Genet. Metab.. 2013 Aug;109(4):366-70.

 

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder of X-linked inheritance caused by a mutation in the ABCD1 gene which determines an accumulation of long-chain fatty acids in plasma and tissues. Recent evidence shows that oxidative stress may be a hallmark in the pathogenesis ...

Last Updated: 29 Jul 2013

Go To URL
Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
 

Author(s): Christoph Wiesinger, Markus Kunze, Günther Regelsberger, Sonja Forss-Petter, Johannes Berger

Journal: J. Biol. Chem.. 2013 Jun;288(26):19269-79.

 

X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder, is caused by mutations in the ABCD1 gene encoding the peroxisomal ATP-binding cassette (ABC) transporter ABCD1 (adrenoleukodystrophy protein, ALDP). Biochemically, X-ALD is characterized by an accumulation of ...

Last Updated: 1 Jul 2013

Go To URL
Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.
 

Author(s): Zhihong Wang, Aizhen Yan, Yuxiang Lin, Haihua Xie, Chunyan Zhou, Fenghua Lan

Journal: PLoS ONE. 2013 ;8(3):e57977.

 

X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder caused by mutations in the ABCD1 gene. Approximately 20% of X-ALD female carriers may develop neurological symptoms. Skewed X chromosome inactivation (XCI) has been proposed to influence the manifestation ...

Last Updated: 7 Mar 2013

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 10 free, full-text review articles on human participants. First 3 results:

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
Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?
 

Author(s): Elena Galea, Nathalie Launay, Manuel Portero-Otin, Montserrat Ruiz, Reinald Pamplona, Patrick Aubourg, Isidre Ferrer, Aurora Pujol

Journal: Biochim. Biophys. Acta. 2012 Sep;1822(9):1475-88.

 

X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative disorder expressed as four disease variants characterized by adrenal insufficiency and graded damage in the nervous system. X-ALD is caused by a loss of function of the peroxisomal ABCD1 fatty-acid transporter, ...

Last Updated: 23 Jul 2012

Go To URL
Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy.
 

Author(s): Johannes Berger, Aurora Pujol, Patrick Aubourg, Sonja Forss-Petter

Journal: Brain Pathol.. 2010 Jul;20(4):845-56.

 

Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN). Currently, the most efficient therapeutic opportunity for patients with the cerebral form of X-ALD is hematopoietic stem cell transplantation ...

Last Updated: 14 Jul 2010

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
 

Status: Recruiting

Condition Summary: Childhood Cerebral Adrenoleukodystrophy; (X-linked Adrenoleukodystrophy Cerebral Childhood)

 

Last Updated: 18 Jul 2014

Go to URL
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy

 

Last Updated: 5 Feb 2013

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