Adrenoleukodystrophy is a rare genetic disease passed down from parent to child that affects the nervous system, adrenal glands, and/or testicles. The disease is more common, more severe and occurs earlier in males than females, and is found in approximately one in 20,000 people.
There are a variety of types of adrenoleukodystrophy that are grouped into 3 major categories:
Symptoms vary based on the type of the disease with the childhood cerebral form being the most severe and Addison’s disease being the mildest.
The disease is caused by a genetic defect of a gene (ABCD1 gene) on the X chromosome that causes a buildup of a specific type of fat in the body called very long-chain fatty acids. This buildup results in damage to the myelin sheath covering nerve cells in the brain and/or spinal cord, as well as to the adrenal gland and testicles, depending on what form of adrenoleukodystrophy a person has. The myelin sheath insulates and protects nerve cells and when it breaks down, the nerves have trouble transmitting messages to or from the brain, and the body loses control of certain functions.
The symptoms of adrenoleukodystrophy depend on the type of this disease:
Childhood cerebral form
Early diagnosis of adrenoleukodystrophy is key to the potential success of treatment, especially with the childhood cerebral form. Diagnosis may be made using a simple blood test that measures the amount of very long-chain fatty acids in the blood. Magnetic resonance imaging of the brain, genetic testing to look for changes (mutations) in the ABCD1 gene, and skin biopsy also may be used.
Treatment for adrenoleukodystrophy, due to its complexity and involvement of multiple organ systems, requires coordination of multiple specialties, including (but not all inclusive) neurology, endocrinology, and physical therapy.
Stem cell transplantation may slow or stop the progression of adrenoleukodystrophy in certain children if used early after diagnosis of the cerebral form of the disease. The stem cells used for transplantation are taken from donor bone marrow or donor umbilical cord stem cells. This transplant does carry risks and is normally not recommended in children with severe symptoms.
People with adrenal insufficiency will need replacement of adrenal steroids, including glucocorticoids (hydrocortisone, prednisone, dexamethasone, etc.) and mineralocorticoid (fludrocortisone). In addition, physical therapy and medications may help relieve some of the physical symptoms of adrenoleukodystrophy.
Use of Lorenzo’s oil, a mixture of oleic acid and erucic acid, is controversial. Some studies have shown that it may prevent or delay the childhood cerebral form from developing if given before children have symptoms, while other studies have not. A detailed discussion with your treating physician is needed to determine this treatment.
The childhood cerebral form is progressive (worsens over time) and may lead to a long-term coma a few years after symptoms develop if left untreated. The adult forms of this disease typically are milder, but may lead to early death in those who are severely affected or have adrenal crisis due to Addison’s disease.
Fight ALD. Overview. http://www.fightald.org/overview.htm. Accessed October 20, 2014.
Genetics Home Reference. X-linked adrenoleukodystrophy. http://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy. Accessed October 20, 2014.
GeneReviews at NIH. http://www.ncbi.nlm.nih.gov/books/NBK1315/. Accessed October 20, 2014.
Mayo Clinic. Disease and condition: adrenoleukodystrophy.http://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/care-at-mayo-clinic/tests-diagnosis/con-20028957. Accessed October 20, 2014.
MedlinePlus. Adrenoleukodystrophy. http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm. Accessed October 20, 2014.
National Institute of Neurological Disorders and Stroke. NINDS adrenoleukodystrophy information page. http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm. October 20, 2014.
United Leukodystrophy Foundation. Adrenomyeloneuropathy. http://ulf.org/adrenomyeloneuropathy-amn. October 20, 2014.