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 N-acetylaspartic acid in the brain. This causes a degeneration of the white matter. Typically, symptoms begin in the first year of life. Parents tend to notice when a child is not reaching particular developmental milestones, including poor muscle tone and lack of head control. Eventually, the child can develop feeding problems, seizures, and loss of vision. Although death often occurs before 18 months of age, some live until they are teenagers or, rarely, young adults.
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