The full name of ALD is Adrenoleukodystrophy. It is a rare X chromosome sex linked metabolic disorder that is characterized by the loss of myelin on nerve fibers within the brain. Myelin is the fatty covering on the nerve fibers. The disease causes the continued degeneration of the adrenal gland. The basic defect is that the impaired capacity todegrade very long chain fatty acids that are found in the blood plasma and tissues of the body. These fatty acids accumulate in the cerebral white matter of the brain and the adrenal glands.
ALD only effects males. The symptoms of ALD may develop due to abnormal or a lack of microbodies that participate in the metabolism of fats called peroxisomes in the liver. This causes a disturbance of fatty acid metabolism and results in the abnormal accumulation of very long chain fatty acids. The exact enzyme deficiency that prevents the breakdown of VLCFAs is not known.
ALD is an allelic mutation. The disease is caused by one mutation at the locus Xq28. The mutation causes deficient activity of the ligase enzyme. Diagnosis of the disease can be made from cultured skin fibroblasts or amniotic fluid cells.
The disease is preventable through a combination of oleic and erucic acid (as used in Lorenzo's Oil) and a restricted diet lacking in very long fatty acids. More recently, some ALD patients have been experimentally treated with Glycerol Trioleate. Continued research is being done to determine the effectiveness and safeness of these substances.
For those that are identified with the disease prenatally or soon after birth, this is a successful treatment. Those that take the prescribed dose of the oil and are restricted in their diet appropriately can live otherwise normal lives.
The Myelin Project is the research project dedicated to the cure of...