Adrenoleukodystrophy (ALD)

 Adrenoleukodystrophy, or ALD, is a rare, genetic disorder that affects boys within the ages of four to ten years. Basically, it is a disease that causes the loss or destruction of the myelin sheath surrounding nerve cells in the brain. It also causes the progressive dysfunction of the adrenal gland. That makes long, fatty chains of acid form, and damage nerve cells, which leads to slurred speech, deafness, blindness, coma, and eventually, death. The mortality of this disease is over 85% of its patients.  ALD was discovered in 1993, which is recent. So, if you inferred, there is still a whole lot unknown about this disorder. At first, children seem "normal." But, as time goes on, they get behavior problems, such as ADD or ADHD, temper tantrums, and poor performance in school or other assignments/tasks. But, as time goes on, more symptoms show up, such as gait, auditory and urinary disturbances, slow progressive stiffness, weakness in the lower limbs, disorders relating to attention deficit, and hyperactivity. Eventually, the child's fatty acid levels rise, bringing destruction to the brain. This can be found during a CT scan or acid tests. The disease only appears in males, due to having two X chromosomes. Women can only be carriers, because they have one X chromosome. The disease happens in 1-20,000 children in the United States. On the molecular level, this disease is caused by an AG deletion on the nucleotide 1801-1802. This only happens on two X chromosomes. There is still much to understand about this rare disorder, but, a few treatments are available now. For example, patients can be put on steroids, a diet of low fat and bone marrow transplant. The most recent cure, which only works if discovered early enough, is called Lorenzo's Oil. With a combination of regular cooking oils, this can out balance the developments of fatty acids, and, bring the acid level back to normal. This was discovered by two parents wanting to cure their child, Lorenzo. 

Sources:

www.clearinghouse.missouriwestern.edu/manuscripts/170.php

healthlink.mcw.edu/article/921176192.html

Youtube: Lorenzo's Oil part 1