Adrenoleukodystrophy

Adrenoleukodystrophy

Adrenoleukodystrophy is a rare, inherited metabolic disorder. People with ALD have high levels of saturated, very long chain fatty acids that build up in the brain. This is due to the individual's inability to produce the enzyme that breaks down these fatty acids. The fatty acids dissolve the myelin surrounding the nerve cells. No one knows exactly why these fatty acids destroy myelin, and this is why the cure took so long to find. This loss of myelin is the primary characteristic of ALD. The most common symptoms are usually behavioral changes such as withdrawal or aggression, bad memory, and poor school performance. Other symptoms include blindness, learning disabilities, seizures, poor speech, difficulty swallowing, deafness, odd gait and coordination, fatigue, vomiting, and dementia.

Treatments for ALD include physical therapy, psychological support, and special education. A mixture of oleic acid and euric acid, called "Lorenzo's Oil," when administered to boys with ALD can reduce or delay the appearance of symptoms. Augosto Odone discovered this mixture. He acquired the euric acid from a firm in England when no one else would make it, and the oleic acid was sitting on a shelf in a scientist's office. The mixture is four parts euric and 1 part oleic. Bone marrow transplants provide benefit to boys who have early evidence of ALD. The prognosis for patients with ALD is often not good due to irreversible brain damage. Now, death usually occurs within 1 to 10 years after the discovery of symptoms, but this is improved from the time ALD was discovered, when all people afflicted with ALD died within two years.