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The Krabbe Disease

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Krabbe Disease

According to the website ‘Genetic Home Reference’, Krabbe disease, that affects the nervous system; and According to Kugler (2013) it usually affects an estimate of only 1 in 100,000 people worldwide which makes it very rare. Krabbe disease is also part of leukodystrophies, a group of disorders resulting from demyelination or the loss of myelin. It is caused by the insufficient amount of galactosylceramidase, which needed to make myelin. Myelin is the substance that is surrounding and protecting the nerve fibers. Without myelin, brain cells die, which in turn causes the nerves in the brain and other parts of the body to not work properly. People with this disorder also have an abnormal presence of globe-shaped cells that usually contains two or more nucleus called the globoid cells.

The disease has the possibility to develop later in life but it is mostly present in infants. There is no cure for this disease as of the moment, which makes it very deadly; and infants having this disease will have a high chance of dying before reaching two years old.

Krabbe disease is a genetic disorder, meaning the person with the disease got it from his or her parents. It is caused a permanent change in the DNA sequence making up a certain gene or what other people call a genetic mutation. Chromosome 14 is where the gene for Krabbe disease located and a child can only inherit the disease if he or she got the abnormal gene from both parents. The abnormal gene then results in the deficiency of galactosylceramidase (GALC), an important enzyme that the body needs. GALC is the enzyme needed to make and maintain myelin, without GALC, the nerves will remain unprotected; a substance called galactolipids will also build up in the brain ...

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...e if the parent or the child has GALC deficiency which would then confirm that presence of the disease; the test could also be done to unborn children especially if the parents are carrying the defective gene. A lumbar puncture could also be done to get a sample of the cerebrospinal fluid which would contain high levels of protein if the person has the disease.

References:

Cafasso, J. (2012, July 3). Krabbe Disease. Retrieved from http://www.healthline.com/health/krabbe-disease?toptoctest=expand

Kugler, M. (2013, October 4). Krabbe Disease. Retrieved from http://rarediseases.about.com/cs/krabbedisease/a/020104.htm

Krabbe Disease (2014, February 25). Retrieved from http://www.ghr.nlm.nih.gov/condition/krabbe-disease

Tegay, D. (2012, November 9). Krabbe Disease Clinical Presentation. Retrieved from http://emedicine.medscape.com/article/951722-clinical#a0217
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