Health Encyclopedia

Adrenoleukodystrophy

Definition

X-linked adrenoleukodystrophy describes several closely related inherited disorders that disrupt the breakdown (metabolism) of certain fats (very-long-chain fatty acids).

Alternative Names

Adrenoleukodystrophy; Adrenomyeloneuropathy; Addison disease; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex

Causes, incidence, and risk factors

Adrenoleukodystrophy is passed down from parents to their children 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

Symptoms

Childhood cerebral type:

Adrenal problems
Changes in muscle tone, especially muscle spasms and spasticity
Crossed eyes (strabismus)
Decreased understanding of verbal communication (aphasia)
Deterioration of handwriting
Difficulty at school
Difficulty understanding spoken material
Hearing loss
Hyperactivity
Progressive nervous system deterioration
- Coma
- Decreased fine motor control
- Paralysis
Seizures
Swallowing difficulties
Visual impairment or blindness

Adrenomyelopathy:

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

Adrenal gland failure (Addison type):

Coma
Decreased appetite
Increased skin pigmentation
Loss of weight, muscle mass (wasting)
Muscle weakness
Vomiting

Signs and tests

Blood levels show elevated very-long-chain fatty acids
Chromosome study shows ABCD1 gene mutations
MRI of the head shows damage to the white matter of the brain (white matter is a type of brain tissue)

Treatment

Adrenal dysfunction is treated with steroids (such as cortisol).

A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids.

These oils are called Lorenzo's oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.

Bone marrow transplant is also being tested as an experimental treatment.

Expectations (prognosis)

The childhood form of X-linked adrenoleukodystrophy is a progressive disease that leads to a long-term coma (vegetative state) about 2 years after neurological 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.

Complications

Adrenal crisis
Vegetative state (long-term coma)

Calling your health care provider

Call your health care provider if your child develops symptoms of X-linked adrenoleukodystrophy or if you have a child with X-linked adrenoleukodystrophy who is worsening.

Prevention

Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. The carrier state in females can be diagnosed in 85% of the cases using a very-long-chain fatty acid test and a DNA probe study by specialized laboratories.

Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from chorionic villus sampling or amniocentesis.

Review Date:11/12/2007
Reviewed By:Rachel A. Lewis, M.D., F.A.A.P., Columbia University Pediatric Faculty Practice, New York, NY. Review provided by VeriMed Healthcare Network.

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