Definition:
Canavan Disease (also know as ACY2 deficiency) is a rare genetic defect that characterizes a spongy deterioration of the brain and spinal cord. The symptoms that indicate the spread of the disease develop at infancy, usually beginning with progressive mental decline and rapid loss of head control, balance and muscle tone. Affected infants have an abnormally large head caused by swelling. This disease is caused by an abnormality found in the ASPA gene that stops the cells from producing aspartocytase, an enzyme important in brain development.
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