08-27-2006, 08:44 PM
Canavan Disease
like Tay-Sachs, is inherited as an autosomal recessive trait & belongs to leukodystrophies, rule out E
In CD, the white matter deteriorates because affected children have a deficiency of the enzyme aspartoacylase, which leads to the accumulation of a chemical, called N-acetyl-aspartic acid (NAA), in the brain.
One of the earliest signs of CD recognized by many parents is overall low muscle tone and lack of head control.
like Tay-Sachs, is inherited as an autosomal recessive trait & belongs to leukodystrophies, rule out E
In CD, the white matter deteriorates because affected children have a deficiency of the enzyme aspartoacylase, which leads to the accumulation of a chemical, called N-acetyl-aspartic acid (NAA), in the brain.
One of the earliest signs of CD recognized by many parents is overall low muscle tone and lack of head control.