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Ency. home > Disease > C > Canavan disease

Canavan disease   

Overview | Symptoms | Treatment | Prevention

Alternative names:

Spongy degeneration of the brain; Aspartoacylase deficiency

Definition:

Canavan disease is an inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain.

Causes and Risks

Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population. A deficient enzyme, aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Typical cases have onset of symptoms in the first year of life with loss of developmental milestones and death before 18 months of age.

Ency. home > Disease > C > Canavan disease

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