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
Worsening nervous system deterioration, including coma, decreased fine motor control, and paralysis
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):
Increased skin color (pigmentation)
Loss of weight, muscle mass (wasting)
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.
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/
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.