Skip to main content

Health Encyclopedia

Search the Health Encyclopedia

Adrenoleukodystrophy

Definition

Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families.

Alternative Names

X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex

Causes

Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males, although some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.

The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes. This disrupts normal activity in these parts of the body.

There are 3 major categories of disease:

  • Childhood cerebral form -- appears in mid-childhood (at ages 4 to 8)
  • Adrenomyelopathy -- occurs in men in their 20s or later in life
  • Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormones

Symptoms

Childhood cerebral type symptoms include:

  • Changes in muscle tone, especially muscle spasms and uncontrolled movements
  • Crossed eyes
  • Handwriting that gets worse
  • Difficulty at school
  • Difficulty understanding what people are saying
  • Hearing loss
  • Hyperactivity
  • Worsening nervous system damage, including coma, decreased fine motor control, and paralysis
  • Seizures
  • Swallowing difficulties
  • Visual impairment or blindness

Adrenomyelopathy symptoms include:

  • Difficulty controlling urination
  • Possible worsening muscle weakness or leg stiffness
  • Problems with thinking speed and visual memory

Adrenal gland failure (Addison type) symptoms include:

  • Coma
  • Decreased appetite
  • Increased skin color
  • Loss of weight and muscle mass (wasting)
  • Muscle weakness
  • Vomiting

Exams and Tests

Tests for this condition include:

  • Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland
  • Chromosome study to look for changes (mutations) in the ABCD1 gene
  • MRI of the head

Treatment

Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.

A specific treatment for X-linked adrenoleukodystrophy is not available. A bone marrow transplant can cure a people of the condition.

Outlook (Prognosis)

The childhood form of X-linked adrenoleukodystrophy is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs.

The other forms of this disease are milder.

Possible Complications

These complications can occur:

  • Adrenal crisis
  • Vegetative state

When to Contact a Medical Professional

Call your health care provider if:

  • Your child develops symptoms of X-linked adrenoleukodystrophy
  • Your child has X-linked adrenoleukodystrophy and is getting worse

Prevention

Genetic counseling is recommended for couples with a family history of X-linked adrenoleukodystrophy. Mothers of affected sons have an 85% chance of being a carrier for this condition.

Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.

References

Raymond GV. Disorders of very long chain fatty acids. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 86.

Steinberg SJ, Moser AB, Raymond GV. X-Linked adrenoleukodystrophy. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. University of Washington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1315/. Updated April 9, 2015. Accessed October 24, 2015.

Review Date:10/27/2015
Reviewed By:Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997-A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

adam.com

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.

Health
Outcome Data

No data available for this condition/procedure.

Health Encyclopedia

More Features

We Appreciate Your Feedback!
1. Did you find this information useful?
         Yes
         No
2. Would you recommend this website to family and friends?
         Yes
         No