What is Canavan Disease?
Canavan disease is a fatal neurological
disorder that deteriorates the white matter in the brain. White matter, or myelin,insulates nerve cells in the brain, much
like insulation around a wire. Children with Canavan disease lack an enzyme responsible for breaking down an acid in the brain
An over accumulation of NAA in the brain hinders the normal formation of myelin.Children born with Canavan
disease are incapable of holding up their heads, sitting or even speaking, and may die in early childhood. Many children do
live into adolescence and even young adulthood.The Canavan gene has been identified allowing at risk couples to test for this
Both parents must be carriers in order to have a child with Canavan (25% risk or 1 in 4).While slightly
more prevalent in the Ashkenazi Jewish population, Canavan occurs in people of every ethnic background as well.
couples concerned about risk of carrying the gene for Canavan should seek genetic counseling.