Canavan disease
Definition
Canavan disease is an inherited disorder of aspartic acid metabolism (breakdown and use). It is characterized by degeneration (falling apart) of the white matter of the brain.
Alternative Names
Spongy degeneration of the brain; Aspartoacylase deficiencyCauses
Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population.
A deficient enzyme, aspartoacylase, results in the accumulation of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to deteriorate.
Typically, symptoms begin in the first year of life. Parents tend to notice when a child is not reaching particular developmental milestones, including lack of head control. The child will also have poor muscle tone. Eventually, the child can develop feeding problems, seizures, and loss of vision.
Although death often occurs before 18 months of age, some patients live until they are teenagers or, rarely, young adults.
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