Adrenoleukodystrophy

What is Adrenoleukodystrophy?

Adrenoleukodystrophy is also known as ALD. It is a genetic disease that is deadly, affecting 1 in every 18,000 people, and it affects men and boys more severely.

ALD is a brain disorder that destroys myelin, which is the protective layer surrounding the neurons within the brain. It is the result of a genetic abnormality or genetic mutation that affects the X chromosome.

What are the Symptoms of Adrenoleukodystrophy?

Some patients will suffer with adrenal insufficiency, so they will have lower levels of hormones like cortisol and adrenaline. That can lead to abnormal heart rate, blood pressure, and sexual development.

Symptoms include

Over time, ALD can cause deafness, blindness, loss of muscle control, dementia, and seizures. The disease is progressive, and it ultimately results in permanent disability or death, typically within two to five years after a patient has been diagnosed.

Child Adrenoleukodystrophy

The most severe form of Adrenoleukodystrophy affects children between 4 and 10 years of age. Normal children, especially boys, start to exhibit behavioral issues. They may have trouble concentrating or they may withdraw themselves. As the disease continues to take its toll on the brain, the symptoms worsen.

Adolescent and adult Adrenoleukodystrophy

When the disease develops between the ages of 11 and 21, symptoms are similar but they will progress more slowly. Adult Adrenoleukodystrophy could start anywhere between a person’s 20s and 50s, and symptoms will be much like those associated with schizophrenia or dementia.

Adrenoleukodystrophy Causes

Adrenoleukodystrophy (ALD) is caused by a genetic mutation in the X chromosome that affects the production of the ALD protein (which is important for breaking down very fatty acids in the body). The conditions it causes are childhood cerebral ALD (which causes severe and permanent disability where it is not fatal), adrenomyolopathy (which is less severe and does not usually appear until adulthood), and some cases of Addison’s disease (which is also less severe and affects hormone-producing glands only).

Because adrenoleukodystrophy is caused by an X chromosome mutation, it is considered to be an X-linked condition and is typically passed on from a mother to her male child.

If this mutation is in their family history, people at risk of developing Adrenoleukodystrophy include:

  • boys between the ages of four and eight
  • men in their twenties and older

Women who carry the defective chromosome usually are not affected, although some do start displaying mild symptoms as they age. If the symptoms are going to occur in a woman, they are most likely to do so after the age of 35.

How is Adrenoleukodystrophy Treated?

Abnormal adrenal function can be treated by administering corticosteroid replacement therapy. Also, a bone marrow transplant may help those who are suffering with the early stages of Adrenoleukodystrophy.

Patients could also benefit from the supportive care provided by physical therapists, family counselors, psychologists, and urologists.

New research is offering hope for successful prevention and treatment of this disease.

Adrenoleukodystrophy Prevention

Since adrenoleukodystrophy is an inherited mutation and passed on from parent to child, there is no way to prevent it from occurring.

Women whose families have a history of the conditions it causes are strongly encouraged by doctors to go through genetic counseling before trying to start a family in order to discuss and assess the risk of passing it on to another generation. They may also be encouraged to go through genetic testing to see if they carry the mutation.

There are ways to determine whether or not a child has the ALD mutation before they are born. It can be found by having prenatal testing such as amniocentesis done or a chorionic villus sampling taken at the appropriate time during pregnancy.

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Last Reviewed:
September 11, 2016
Last Updated:
November 02, 2017