Childhood Cerebral Adrenoleukodystrophy: Working Toward A Cure

1315 words - 5 pages

Childhood Cerebral Adrenoleukodystrophy, or ALD, affects approximately 1 in 100,000 boys. It is caused by a mutation on the X chromosome. Starting between age 4 and 10, it causes a rapid decline in cognitive ability and function to a vegetative state, and eventually leads to coma and death. Despite the grim outlook, many treatment options are available, from dietary supplements such as Lorenzo’s Oil, to sophisticated operations like bone marrow transplants. With this research, the prognosis for a child with ALD is better than it ever has been before. Research still continues today to raise awareness and strive towards a cure for this terrible and tragic disease.
Childhood ALD is caused by mutations on the ABCD1 gene on the long arm of the X chromosome. The ABCD1 gene is responsible for the formation of the Adrenoleukodystrophy Protein, or ALDP. This protein helps the body digest very long chain fatty acids (ABCD1, 2014). When the protein is not present, the VLCFAs build up in places such as the adrenal glands and in the brain (Lohr, 2011). Since the childhood form of the disease is so severe, most of the boys with the mutation do not live to pass it on, making it nearly impossible for girls to get the disease. Mutations on the ABCD1 gene also cause AMN, a less severe form of the disease that affects adults.
Although childhood ALD is the rarest form of the disease, it is also the most severe. Affecting boys usually between the ages of four and ten, early symptoms of the disease include bad behavior, difficulty articulating words, and hyperactivity. Left untreated, it can lead to seizures, muscle spasms, trouble swallowing, lack of motor control, crossed eyes, adrenal gland dysfunction, and paralysis. A boy with the disease without treatment will usually die 2-3 years after early symptoms start to show up (Krucik, 2012).
The severe affects of childhood ALD are caused by the buildup of VLCFAs in various places throughout the body. According to John Lohr, “The build-up of very long chain fatty acids interferes with the ability of the adrenal gland to convert cholesterol into steroids and causes demyelination of nerves in the white matter of the brain. Demyelinated nerve cells are unable to function properly” (2011, para. 4). The VLCFAs that build up in the brain damage the myelin sheath around the nerve cells, which protect the cells. Without the myelin sheath, the nerve fibers are left exposed and they are damaged. This causes signals in the brain to be slowed or broken up. The damage the white matter of the brain causes the rapid decline in cognitive ability. VLCFAs can also cause damage to the adrenal glands, as they build up inside of them and cause them to not function properly.
There are no real risk groups for ALD, other than young boys who have a mother who carries the mutated gene. If there is a family history of ALD, testing can be done on the mother’s genotype to see if she carries the mutated gene. Other than testing, there is no way...

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