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Krabbe Disease Research Paper

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What is Krabbe disease? Krabbe disease, also known as globoid cell leukodystrophy, is a rare but deadly disease. It is caused by the inability to create enough of a substance called galactosylceramidase, which is needed to make myelin. This leads to a buildup of toxic substances in cells that produce the myelin sheath and to a progressive loss of myelin that covers many nerves. Myelin acts as a protective covering for cells and nerves and without it, cells and nerves in the brain can’t function properly.

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with …show more content…

For infants who have not yet started showing symptoms, treatment with umbilical cord blood stem cells has shown promise in enabling normal or near normal lives. The method can take place within weeks of birth. Neural deterioration is slowed down following the procedure and symptoms are less harsh. Kids and babies who have already started showing symptoms of the disease don’t profit from the treatment. Some people with late onset Krabbe disease benefit from treatment with umbilical cord stem cells even though it has a higher success rate on kids. Bone marrow stem cells can be used in place on umbilical cord blood stem cells, however they require the donor to be a perfect match. There is also less risk of immune system complications. For kids that have started showing symptoms and others not suitable for the procedure. the only treatment is to address symptoms as they

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