Adrenoleukodystrophy

Topics: Adrenoleukodystrophy, Nervous system, Central nervous system Pages: 2 (555 words) Published: October 19, 2013
Adrenoleukodystrophy, also known as (ALD), is an x-linked disease. ALD, also called Siemerling-Creutzfeldt Disease or Schilder's disease. ALD is a rare, inherited disorder ALD occurs most often in males than women. ALD affects approximately 1 in 20,000 boys from all races. It affects the nervous system and adrenal glands, which are small glands located on top of each kidney. People with Adrenoleukodystrophy have continuous downfall of the myelin. Myelin is the fatty substance that covers and protects nerves. Without the myelin, the neurons stop telling the muscles and other elements of the central nervous system what to do.

Women have two X chromosomes and are the carriers of the disease. Men have an X and a Y chromosome. If a woman inherits the abnormal X chromosome, she still has a normal second X chromosome to help balance the effects of the mutation. Men don’t have a second X chromosome, so if they inherit this genetic abnormality they will get the disease. Affected men usually do not live long enough to pass the gene on to their children. ALD is diagnosed by observing symptoms, a biochemical test, and a family history. The biochemical test detects whether elevated levels of a very long chain of fatty acids in samples from amniocentesis.

ALD causes the creation of a malfunctioning carrier protein found in peroxisomes. Peroxisomes are found in eukaryotic cells. They are involved in the breakdown of complex molecules in living organisms to form simpler ones together with the release of energy; destructive metabolism, which is the catabolism, of very long chain fatty acids (VLCSFAs). VLCSFAs are fatty acids that do not have carbon-carbon double bonds and are 24 or 26 carbon molecules in length. The buildup of VLCSFAs is what causes the demyelination of cells within the nervous system. Demyelination is loss of the myelin. Fatty Acids are not fats. Fatty acids are stored as components or triacylglycerol’s. All triacylglycerol’s are...
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