Adrenoleukodystrophy

Adrenoleukodystrophy is a genetic disease that causes the buildup of fatty acids in the body, particularly those involved in the production of myelin, the cells of the adrenal cortex, and the cells that produce testosterone in the testicles. It presents most commonly in males, affecting about one in every 20,000 males. The disease usually shows no symptoms in early childhood, but in older children, the most severe form of the condition causes rapid degeneration of neurological function leading to a vegetative state. In other cases, it presents with symptoms based on the organ most affected by the fatty acid buildup. 
In young patients, the disease can be treated with a stem cell transplant or gene therapy. In older children, an experimental treatment known as "Lorenzo's oil" is currently being evaluated in clinical trials, as it appears to inhibit the formation of fatty acid chains. In addition, patients have to make dietary changes to avoid eating fatty acids. 
The condition is difficult to diagnose as there are no obvious clinical signs. The appearance of fatty acids in plasma do not appear to have any correlation to levels elsewhere in the body. Although screening of newborns has been proposed, not all people with the gene defect will present with the disease. 
Adrenoleukodystrophy at Wikipedia
Category:Genetics