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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. 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 three 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
  • Skin biopsy

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.

Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life.

Support Groups

The following resources can provide more information on adrenoleukodystrophy:

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

James WD, Berger TG, Elston DM. Errors in metabolism. In: James WD, Berger TG, Elston DM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 12th ed. Philadelphia, PA: Elsevier; 2016:chap 26.

Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 5th ed. Philadelphia, PA: Elsevier; 2018:chap 29.

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

Vanderver A, Wolf NI. Genetic and metabolic disorders of the white matter. In: Swaiman KF, Ashwal S, Ferriero, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 99.

Review Date:10/26/2017
Reviewed By:Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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Health Outcome Data

No data available for this condition/procedure.

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