Learn About Adrenoleukodystrophy

What is the definition of Adrenoleukodystrophy?

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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What are the alternative names for Adrenoleukodystrophy?

X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex

What are the causes of Adrenoleukodystrophy?

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:

  • Childhood cerebral form -- appears in mid-childhood (at ages 4 to 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
What are the symptoms of Adrenoleukodystrophy?

Childhood cerebral type symptoms include:

  • Changes in muscle tone, especially muscle spasms and uncontrolled movements
  • Crossed eyes
  • Handwriting that gets worse
  • Difficulty at school
  • Difficulty understanding what people are saying
  • Hearing loss
  • Hyperactivity
  • Worsening nervous system damage, including coma, decreased fine motor control, and paralysis
  • Seizures
  • Swallowing difficulties
  • Visual impairment or blindness

Adrenomyelopathy symptoms include:

  • Difficulty controlling urination
  • Possible worsening muscle weakness or leg stiffness
  • Problems with thinking speed and visual memory

Adrenal gland failure (Addison type) symptoms include:

  • Coma
  • Decreased appetite
  • Increased skin color
  • Loss of weight and muscle mass (wasting)
  • Muscle weakness
  • Vomiting
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What are the current treatments for Adrenoleukodystrophy?

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.

Who are the top Adrenoleukodystrophy Local Doctors?
Elite
Highly rated in
20
conditions
Neurology

Mass General Brigham

Neuromuscular Diagnostic Center

165 Cambridge St 
Boston, MA 2114

Florian Eichler is a Neurologist in Boston, Massachusetts. Dr. Eichler has been practicing medicine for over 25 years and is rated as an Elite doctor by MediFind in the treatment of Adrenoleukodystrophy. He is also highly rated in 20 other conditions, according to our data. His top areas of expertise are Adrenoleukodystrophy, CACH Syndrome, Leukodystrophy, and Metachromatic Leukodystrophy. He is licensed to treat patients in Massachusetts. Dr. Eichler is currently accepting new patients.

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Highly rated in
13
conditions
Pediatric Hematology Oncology
Pediatrics
Hematology

M Health Fairview

University Of Minnesota Physicians

720 Washington Ave SE 
Minneapolis, MN 55414

Paul Orchard is a Pediatric Hematologist Oncology specialist and a Pediatrics doctor in Minneapolis, Minnesota. Dr. Orchard has been practicing medicine for over 38 years and is rated as an Elite doctor by MediFind in the treatment of Adrenoleukodystrophy. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Adrenoleukodystrophy, Leukodystrophy, Mucopolysaccharidosis Type 1, and Osteosclerosis Autosomal Dominant. He is board certified in Pediatrics and licensed to treat patients in Minnesota. Dr. Orchard is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
10
conditions

Université Paris Sud

Kremlin Bicêtre Hospital 
Paris, FR 

Patrick Aubourg is in Paris, France. Aubourg is rated as an Elite expert by MediFind in the treatment of Adrenoleukodystrophy. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Adrenoleukodystrophy, Addison's Disease, Leukodystrophy, and CACH Syndrome.

What are the support groups for Adrenoleukodystrophy?

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

  • National Organization for Rare Disease Disorders -- rarediseases.org/rare-diseases/adrenoleukodystrophy
  • NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy
What is the outlook (prognosis) for Adrenoleukodystrophy?

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.

What are the possible complications of Adrenoleukodystrophy?

These complications can occur:

  • Adrenal crisis
  • Vegetative state
When should I contact a medical professional for Adrenoleukodystrophy?

Contact your health care provider if:

  • Your child develops symptoms of X-linked adrenoleukodystrophy
  • Your child has X-linked adrenoleukodystrophy and is getting worse
How do I prevent Adrenoleukodystrophy?

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.

Neonatal adrenoleukodystrophy
What are the latest Adrenoleukodystrophy Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
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A Randomized, Double-blind, Placebo-controlled, Multinational, Multicenter Study With Open-label Treatment Extension to Assess the Effect of MIN-102 (IMP) on the Progression of Adrenomyeloneuropathy in Male Patients With X-linked Adrenoleukodystrophy
What are the Latest Advances for Adrenoleukodystrophy?
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
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Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis.
Who are the sources who wrote this article ?

Published Date : November 01, 2021
Published 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.

What are the references for this article ?

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.