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Alternative namesCanavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain .
Causes, incidence, and risk factors
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 with loss of developmental milestones and death before 18 months of age.
Signs and tests
TreatmentTreatment aims to ease the symptoms of the disease. There is no specific treatment.
Support GroupsCanavan Foundation, Inc. 877-4-CANAVAN; Canavan Foundation, Inc. 877-4-CANAVAN;
Last updated: Tue, 06 Jan 2009 00:20:03 GMT