X-linked adrenoleukodystrophy (ALD) is a rare inherited genetic disorder. There are 40 subtypes of leukodytsrophy. X-linked ALD is the most common category. ALD results in degeneration of the: There are six subtypes of X-linked ALD:
ALD is caused by an inherited defective gene.
In people with ALD, the body cannot properly break down fatty acids. This results in a build up of saturated fatty acids in the brain and the adrenal cortex. This causes damage of the myelin sheath in the brain and the adrenal gland.
adrenoleukodystrophy (ALD) is a rare inherited genetic disorder. There are 40 subtypes of leukodytsrophy. X-linked ALD is the most common category. ALD results in degeneration of the:
- Myelin sheath— the fatty insulation covering on nerve fibers in the brain
- Adrenal gland and surrounding adrenal cortex—produces vital hormones
Myelin Sheath Around Nerve Fiber Copyright © Nucleus Medical Media, Inc.
There are six subtypes of X-linked ALD:
- Childhood cerebral ALD
- Adolescent ALD
- Adult cerebral ALD
- Adrenal insufficiency-only
- Symptomatic heterozygotes
You will be asked about your symptoms and medical history. A physical exam will be done.
Your bodily fluids may be tested. This can be done with:
- Blood tests
- Genetic testing
Images may be taken of your brain. This can be done with an
There is no known way to prevent ALD. If you have ALD or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
Early recognition and treatment may prevent symptoms from developing. New technologies may soon allow early identification through newborn screening.
This condition is most common in males, although females may also be affected. It is also more common in children and young adults. Having a mother who carries the defective X-linked ALD gene may increase your risk.
Symptoms can vary within the types of ALD.
There is no known cure for the brain damage of ALD. However, the adrenal deficiency can be treated with cortisone replacement. ALD often causes death within 10 years of the onset of symptoms.
Some therapies can help manage the symptoms of ALD.
- Physical therapy
- Psychological therapy
- Special education for children
There are also some experimental treatments.
Some treatments that are still being investigated that you may want to talk to your doctor about include:
- Bone marrow transplantation
—this procedure may be most helpful when given early to boys with X-linked child-onset ALD
Dietary therapy, which includes consumption of:
- A low fat diet
- Lorenzo’s oil—dietary supplements of glycerol trioleate and glycerol trierucate
- Lovastatin—an anti-cholesterol medication
- Medications that affect interactions between DNA and other proteins