X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex
Adrenoleukodystrophy (ALD) describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are often passed down (inherited) in families.
ALD 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.
Some cases of ALD occur when the gene changes on its own. This is called sporadic and is not inherited.
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 type symptoms include:
Adrenomyelopathy symptoms include:
Adrenal gland failure (Addison type) symptoms include:
In most states, children will be screened for ALD as part of newborn screening tests. This is done with a heel stick to draw blood (as part of the routine screenings done on newborns). Newborn screening does not diagnose the condition, but it can help lead to early testing and diagnosis.
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 ALD is not available. A bone marrow transplant may stop worsening of the condition.
Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life.
More information and support for people with ALD and their families can be found at:
The childhood form of X-linked ALD 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:
Contact your health care provider if:
Genetic counseling is recommended for couples with a family history of X-linked ALD. Mothers of affected sons have an 85% chance of being a carrier for this condition.
Prenatal diagnosis of X-linked ALD 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.
James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Errors in metabolism. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 26.
Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 29.
Wangler MF. Defects in metabolism of lipids./Disorders of very-long-chain fatty acids and other peroxisomal functions. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 106.2.
BACK TO TOPReview Date: 12/31/2023
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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