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Adrenoleukodystrophy X-linked

Other Names for this Disease
  • Adrenoleukodystrophy
  • ALD
  • X-ALD
  • X-linked adrenoleukodystrophy
More Names
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Overview


X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder that occurs most often in males. It 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. There are three distinct types of X-ALD: a childhood cerebral form, an adrenomyeloneuropathy type, and a type called Addison disease.[1] A specific treatment for X-ALD is not currently available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids. Bone marrow transplantation (BMT) is an option for boys and adolescents in early stages who have evidence of brain involvement on MRI.[2]  Gene therapy is being investigated as a treatment for X-ALD; promising results for two young boys who received gene therapy treatement are discussed by Dr. Nathalie Cartier, et. al. in the journal Science.

References

  1. X-linked adrenoleukodystrophy. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=xlinkedadrenoleukodystrophy. Accessed February 28, 2009.
  2. Lewis RA. Adrenoleukodystrophy. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm. Accessed February 28, 2009.
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General Information

  • Genetics Home Reference (GHR) contains information on Adrenoleukodystrophy X-linked. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Adrenoleukodystrophy X-linked. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Adrenoleukodystrophy X-linked. Click on the link to go to OMIM and review these resources.