Adrenoleukodystrophy

Common Name(s)

Adrenoleukodystrophy, ALD

Adrenoleukodystrophy (ALD) is a rare genetic condition that affect the nervous system (brain and nerve cells) and adrenal glands. It is an X-linked condition, so it more commonly affects boys and men. ALD 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). Myelin is like insulation around a wire. When it breaks down, the nerves have a harder time sending messages to the brain. This can cause learning and behavior problems and difficulties swallowing, walking or with coordination. Excess VLCFAs may also damage the outer layer of the adrenal glands. These glands make hormones which help balance sugar and salt levels, and help our body respond to infection, surgery and injury. The damaged adrenal glands don’t make enough of the hormones – a condition known as Addison’s disease or adrenocortical insufficiency. Symptoms include weakness, weight loss, skin changes and vomiting. There are three forms of ALD which differ in the age symptoms begin and in severity. See related conditions for more on each form

ALD is caused by a mutation (change) in the ABCD1 gene. This gene makes the adrenoleukodystrophy 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. Treatment depends on the type of ALD. Many babies are screened for ALD at birth, but the conditions included in newborn screening 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 "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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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

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Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

Last Updated: 11 Jul 2016

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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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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

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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

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The Stennis Foundation

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

Last Updated: 30 Apr 2015

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General Support Organizations

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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
Logo
Ben's Friends

Our mission is to ensure that everyone in the world with a rare disease has a safe place to go and connect with others like them.

http://www.bensfriends.org

Last Updated: 11 Jul 2016

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
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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

 
 
 
 
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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" returned 176 free, full-text research articles on human participants. First 3 results:

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia.
 

Author(s): Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong

Journal:

 

Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical ...

Last Updated: 8 May 2017

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Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
 

Author(s): Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim

Journal: Arq Neuropsiquiatr. 2016 Dec;74(12):953-966.

 

To describe survival and neurological outcomes after HSCT for these disorders.

Last Updated: 19 Dec 2016

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Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.
 

Author(s): Silvia Tortorelli, Coleman T Turgeon, Dimitar K Gavrilov, Devin Oglesbee, Kimiyo M Raymond, Piero Rinaldo, Dietrich Matern

Journal: Clin. Chem.. 2016 Sep;62(9):1248-54.

 

Newborn screening for lysosomal storage disorders (LSD) has revealed that late-onset variants of these conditions are unexpectedly frequent and therefore may evade diagnosis. We developed an efficient and cost-effective multiplex assay to diagnose six LSDs and several peroxisomal ...

Last Updated: 30 Aug 2016

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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" returned 13 free, full-text review articles on human participants. First 3 results:

Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration.
 

Author(s): Stéphane Fourcade, Isidre Ferrer, Aurora Pujol

Journal: Free Radic. Biol. Med.. 2015 Nov;88(Pt A):18-29.

 

Peroxisomal and mitochondrial malfunction, which are highly intertwined through redox regulation, in combination with defective proteostasis, are hallmarks of the most prevalent multifactorial neurodegenerative diseases-including Alzheimer's (AD) and Parkinson's disease (PD)-and of ...

Last Updated: 5 Oct 2015

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Newborn Screening for Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy

 

Last Updated: 5 Jan 2017

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Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy
 

Status: Not yet recruiting

Condition Summary: X-Linked Adrenoleukodystrophy

 

Last Updated: 16 Oct 2017

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

Status: Available

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 8 Dec 2016

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