Adrenoleukodystrophy

Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families.

Causes

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.

X-linked genetic trait

Genetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, ski...

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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 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

Symptoms

Childhood cerebral type symptoms include:

• Changes in muscle tone, especially muscle spasms and uncontrolled movements
• Crossed eyes

  Crossed eyes

  Strabismus is a disorder in which both eyes do not line up in the same direction. Therefore, they do not look at the same object at the same time. ...

  

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• Handwriting that gets worse
• Difficulty at school
• Difficulty understanding what people are saying
• Hearing loss
• Hyperactivity

  Hyperactivity

  Hyperactivity means having increased movement, impulsive actions, and a shorter attention span, and being easily distracted.

  

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• 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

Exams and Tests

Tests for this condition include:

• Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland
• Chromosome study to look for changes (mutations) in the ABCD1 gene
• MRI of the head

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 can cure a people of the condition.

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:

• Adrenal crisis
• Vegetative state

When to Contact a Medical Professional

Call your health care provider if:

• Your child develops symptoms of X-linked adrenoleukodystrophy
• Your child has X-linked adrenoleukodystrophy and is getting worse

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.