Krabbe diseaseAccording to the 'Genetic Home Reference' website, Krabbe disease, which affects the nervous system; and according to Kugler (2013) it usually affects only 1 in 100,000 people worldwide, making it very rare. Krabbe disease is also part of the leukodystrophies, a group of disorders resulting from demyelination or loss of myelin. It is caused by insufficient amounts of galactosylceramidase, which is needed to produce myelin. Myelin is the substance that surrounds and protects nerve fibers. Without myelin, brain cells die, which in turn causes nerves in the brain and other parts of the body to not function properly. People with this disorder also have an abnormal presence of globe-shaped cells that usually contain two or more nuclei called globoid cells. The disease has the potential to develop later in life but is mostly present in newborns. There is currently no cure for this disease, which makes it very deadly; and children affected by this disease will have a high chance of dying before they reach the age of two. Krabbe disease is a genetic disease, which means that the affected person passed it on from his parents. It is caused by a permanent change in the DNA sequence that makes up a certain gene or by what others call genetic mutation. Chromosome 14 is where the Krabbe disease gene is found, and a child can only inherit the disease if he or she received the abnormal gene from both parents. The abnormal gene then causes deficiency of galactosylceramidase (GALC), an important enzyme that the body needs. GALC is the enzyme necessary to produce and maintain myelin, without GALC the nerves will remain unprotected; a substance called galactolipids will also accumulate in the brain... half of the paper... and if the parent or child has a GALC deficiency, which would confirm the presence of the disease; the test could also be carried out on fetuses, especially if the parents are carriers of the defective gene. A lumbar puncture might also be performed to obtain 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=expandKugler, M. (2013, October 4). Krabbe disease. Retrieved from http://rarediseases.about.com/cs/krabbedisease/a/020104.htmKrabbe Disease (2014, February 25). Retrieved from http://www.ghr.nlm.nih.gov/condition/krabbe-diseaseTegay, D. (2012, November 9). Clinical presentation of Krabbe disease. Retrieved from http://emedicine.medscape.com/article/951722-clinical#a0217