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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, 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.