Adrenoleukodystrophy X-Linked

Common Name(s)

Adrenoleukodystrophy X-Linked

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" 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

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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).

Last Updated: 4 Oct 2012

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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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenoleukodystrophy X-Linked" 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

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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).

http://www.fightald.org

Last Updated: 4 Oct 2012

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" returned 64 free, full-text research articles on human participants. First 3 results:

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.
 

Author(s): Clarissa Troller Habekost, Pedro Schestatsky, Vitor Felix Torres, Daniella Moura de Coelho, Carmen Regla Vargas, Vitor Torrez, Jean Pierre Oses, Luis Valmor Portela, Fernanda dos Santos Pereira, Ursula Matte, Laura Bannach Jardim

Journal:

 

Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of X-ALD heterozygotes, and to correlate them with age, disease duration, mutations, ...

Last Updated: 21 Jan 2014

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Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy.
 

Author(s): Laia Morató, Jorge Galino, Montserrat Ruiz, Noel Ylagan Calingasan, Anatoly A Starkov, Magali Dumont, Alba Naudí, Juan José Martínez, Patrick Aubourg, Manuel Portero-Otín, Reinald Pamplona, Elena Galea, M Flint Beal, Isidre Ferrer, Stéphane Fourcade, Aurora Pujol

Journal: Brain. 2013 Aug;136(Pt 8):2432-43.

 

X-linked adrenoleukodystrophy is a neurometabolic disorder caused by inactivation of the peroxisomal ABCD1 transporter of very long-chain fatty acids. In mice, ABCD1 loss causes late onset axonal degeneration in the spinal cord in association with locomotor disability resembling the ...

Last Updated: 25 Jul 2013

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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

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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" returned 7 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

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[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

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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

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Symptoms, Diagnosis, and Treatment

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

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

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

Status: Available

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 3 Sep 2014

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Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 25 Sep 2013

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