What causes Krabbe Disease?

Krabbe Disease is rare. Research indicates that approximately 1 in every 125 people is a carrier of the disease. Because krabbe disease is inherited in an autosomal recessive manner, it requires that two carriers each pass on the defective gene for a child to be affected. If not, the healthy gene will compensate and allow a carrier to remain disease free. When two carriers have a child they have a 25% chance of both passing on the normal gene, a 50% chance of passing on a normal gene and a mutated gene making the child a carrier, and a 25% chance of passing on two mutated genes resulting in the child being affected by the disease. Krabbe disease occurs in about 1 in every 100,000 births in the United States.

The most common form of Krabbe disease is early-onset, or infantile, where symptoms typically present themselves by six months of age. A less common form is late-onset which develops later in childhood or adolescence. The infantile form of Krabbe disease typically progresses very quickly and is fatal by the age of two, while the later onset form progresses much slower and those affected may live much longer.

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Content on this site is not intended to be used as medical advice in the diagnosis or treatment of any condition and is for informational purposes only. Please seek a medical professional if you have questions or health concerns.

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