Adrenoleukodystrophy Essay

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Adrenoleukodystrophy

Adrenoleukodystrophy is a genetic disease that is passed on from mother to son. ALD is an X-linked disorder. That means it affects only males and is transmitted by a female carrier. This disorder is called X-linked since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes while men only have one. In women, the affected X-chromosome, the one with the gene for ALD does not become active because of the presence of a normal copy of the gene on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection.
ALD affects the nervous system in the brain. The disease strips away the coating or the …show more content…
That means it affects only males and is transmitted by a female carrier. This disorder is called X-linked since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes while men only have one. In women, the affected X-chromosome, the one with the gene for ALD does not become active because of the presence of a normal copy of the gene on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection.
ALD affects the nervous system in the brain. The disease strips away the coating or the covering of the nerves this covering is called myelin. What causes this to happen is the accumulation of long chain fatty acids that accumulate the brain and the adrenal glands. The body normally produces these fatty acids but they are broken down by proteins in the peroxisome in cells but in people with ALD this does not happen. The most common sing that a person has ALD is personality and behavioral changes. Followed by learning disabilities, vision problems, attention deficit disorder, short and long-term memory loss, and loss of coordination or gait.
There is not a cure for ALD but there is a medicine that can slow down the process. The most famous cure is called Lorenzo oil this oil was developed by Augusto and michaela Odone, Lorenzo’s parents. When Lorenzo was first diagnosed with ALD they were told there was not a whole lot that could be done
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Adrenoleukodystrophy and its effects Adrenoleukodystrophy (ALD) is a rare X-linked disease that attacks the central nervous system and breaks down the coating of nerve cells in the brain, called the myelin sheath. It has been discovered that mutations in the ABCD1 gene are linked to cause ALD. Patients who have ALD have very long chains of saturated fatty acids (VLCFA) that accumulate in the brain and in the adrenal cortex. ALD generally affects about 1 in every 100…

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