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Adrenoleukodystrophy

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 often passed down (inherited) in families.

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Neonatal adrenoleukodystrophy

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Causes

Adrenoleukodystrophy 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 adrenoleukodystrophy occur when the gene mutates 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:

Symptoms

Childhood cerebral type symptoms include:

Adrenomyelopathy symptoms include:

Adrenal gland failure (Addison type) symptoms include:

Exams and Tests

Tests for this condition include:

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 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.

Support Groups

More information and support for people with adrenoleukodystrophy and their families can be found at:

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:

When to Contact a Medical Professional

Contact your health care provider if:

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.

Related Information

Metabolism
Adrenal glands
Testes
Genetics
Hyperactivity
Strabismus
Seizures
White matter of the brain
Contracture deformity
Decreased alertness
Acute adrenal crisis

References

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.

Stanley CA, Bennett MJ. Defects in metabolism of lipids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 104.

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Review Date: 11/1/2021  

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 Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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