X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex
Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families.
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 type symptoms include:
Adrenomyelopathy symptoms include:
Adrenal gland failure (Addison type) symptoms include:
Tests for this condition include:
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.
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.
These complications can occur:
Call your health care provider if:
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.
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.
Last reviewed on: 10/27/2015
Reviewed by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.