St. Luke's Hospital
Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
America's 50 Best Hospitals
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia

    Print-Friendly
    Bookmarks

    Adrenoleukodystrophy

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

    Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).

    Causes

    Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 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, which disrupts normal activity. There are three major categories of disease:

    • Childhood cerebral form -- appears in mid-childhood (at ages 4 - 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:

    • Changes in muscle tone, especially muscle spasms and spasticity
    • Crossed eyes (strabismus)
    • Decreased understanding of verbal communication (aphasia)
    • Deterioration of handwriting
    • Difficulty at school
    • Difficulty understanding spoken material
    • Hearing loss
    • Hyperactivity
    • Worsening nervous system deterioration
      • Coma
      • Decreased fine motor control
      • Paralysis
    • Seizures
    • Swallowing difficulties
    • Visual impairment or blindness

    Adrenomyelopathy:

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

    Adrenal gland failure (Addison type):

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

    Exams and Tests

    • Blood levels
    • Chromosome study to look for changes (mutations) in the ABCD1 gene
    • MRI of the head

    Treatment

    Adrenal dysfunction is treated with steroids (such as cortisol).

    A specific treatment for X-linked adrenoleukodystrophy is not 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.

    These oils are called Lorenzo's oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.

    Bone marrow transplant is also being tested as an experimental treatment.

    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

    • Adrenal crisis
    • Vegetative state (long-term coma)

    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 prospective parents with a family history of X-linked adrenoleukodystrophy. Female carriers can be diagnosed 85% of the time using a very-long-chain fatty acid test and a DNA probe study done by specialized laboratories.

    Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from chorionic villus sampling or amniocentesis.

    References

    Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier;2011:chap 592.

    BACK TO TOP

    • Neonatal adrenoleukodyst...

      illustration

      • Neonatal adrenoleukodyst...

        illustration

      Review Date: 12/1/2011

      Reviewed By: John Goldenring, MD, MPH, JD. Pediatrician with the Sharp Rees-Stealy Medical Group, San Diego, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

      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. 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

      A.D.A.M. content is best viewed in IE9 or above, Fire Fox and chrome browser.


      Back  |  Top
      About Us
      Contact Us
      History
      Mission
      Locations & Directions
      Quality Reports
      Annual Reports
      Honors & Awards
      Community Health Needs
      Assessment

      Newsroom
      Services
      Brain & Spine
      Cancer
      Heart
      Maternity
      Orthopedics
      Pulmonary
      Sleep Medicine
      Urgent Care
      Women's Services
      All Services
      Patients & Visitors
      Locations & Directions
      Find a Physician
      Tour St. Luke's
      Patient & Visitor Information
      Contact Us
      Payment Options
      Financial Assistance
      Send a Card
      Mammogram Appointments
      Health Tools
      My Personal Health
      mystlukes
      Spirit of Women
      Health Information & Tools
      Clinical Trials
      Health Risk Assessments
      Employer Programs -
      Passport to Wellness

      Classes & Events
      Classes & Events
      Spirit of Women
      Donate & Volunteer
      Giving Opportunities
      Volunteer
      Physicians & Employees
      For Physicians
      Remote Access
      Medical Residency Information
      Pharmacy Residency Information
      Physician CPOE Training
      Careers
      Careers
      St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
      Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Patient Notice of Privacy Policies PDF Sitemap St. Luke's Mobile