Adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very long chain fatty acids).
X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex
Adrenoleukodystrophy is usually passed down from parent to child 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
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
- Worsening nervous system deterioration, including coma, decreased fine motor control, and paralysis
- Swallowing difficulties
- Visual impairment or blindness
- Difficulty controlling urination
- Possible worsening muscle weakness or leg stiffness
- Problems with thinking speed and visual memory
Adrenal gland failure (Addison type):
- Decreased appetite
- Increased skin color (pigmentation)
- Loss of weight, muscle mass (wasting)
- Muscle weakness
Exams and Tests
- 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
Adrenal dysfunction my 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, but bone marrow transplantation can be performed and can cure patients of the condition.
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.
- 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
Genetic counseling is recommended for prospective parents 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 evaluating cells from chorionic villus sampling or amniocentesis for either a known genetic change in the family or for very long chain fatty acid levels.
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.
Steinberg SJ, Moser AB, Raymond GV. X-Linked adrenoleukodystrophy. GeneReviews™ [serial online]. Updated April 19, 2012. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1315/
Reviewed By:Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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