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Genetic and Rare Diseases Information Center (GARD)

X-linked adrenoleukodystrophy


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[1] 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.[2]  Adrenocortical insufficiency is treated with cortisone replacement.
Last updated: 8/6/2013


  1. Adrenoleukodystrophy. Kennedy Krieger Institute.
  2. Lewis RA. Adrenoleukodystrophy. MedlinePlus. November 12, 2007; Accessed 2/28/2009.
  3. X-linked adrenoleukodystrophy. Genetics Home Reference (GHR). September 2008; Accessed 2/28/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on X-linked adrenoleukodystrophy . This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked adrenoleukodystrophy . Click on the link to view a sample search on this topic.
Other Names for this Disease
  • X-ALD
  • Adrenoleukodystrophy
  • ALD
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