Posted by: Maggie | July 23, 2007

Haley’s Hope

Krabbe disease is a lethal, demyelinating condition caused by a deficiency of galactosylceramidase (GALC) enzyme activity. This leads to accumulation of cerebroside and psychosine. The most common form of Krabbe disease is the infantile form. These babies have mental and motor deterioration related to loss of myelin in the brain and peripheral nervous system. They usually die by two years of age. Less common are later onset forms of Krabbe disease that affect children and adults. It is likely that different mutations in the GALC gene cause this variability in onset and severity of symptoms. Sometimes differences may occur even among family members. Krabbe disease is inherited in an autosomal recessive pattern, two copies of non-working (GALC) genes must be present for symptoms to occur. Researchers are currently trying to develop methods of treatment.

http://www.krabbes.com/haleys_hope/

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