Canavan disease is an inherited disorder of aspartic acid metabolism that is characterized by degeneration of the white matter of the brain .
Alternative Names
Spongy degeneration of the brain; Aspartoacylase deficiency
Causes, incidence, and risk factors
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.
Treatment
Treatment aims to ease the symptoms of the disease. There is no specific treatment.
Support groups
Canavan Foundation, Inc. 877-4-CANAVAN; www.canavanfoundation.org
Expectations (prognosis)
With Canavan disease, the central nervous system degenerates, and progressive disability is likely. Death usually occurs in the first 1 to 2 decades of life.
Complications
This is often a fatal disorder and includes severe disabilities such as mental retardation, blindness, and inability to walk.
Calling your health care provider
Call your health care provider if your child has any symptoms of Canavan disease.
Prevention
Genetic counseling is recommended for prospective parents with a family history of Canavan disease. The carrier state for Canavan disease can be diagnosed by enzyme analysis of skin fibroblasts. Prenatal diagnosis is possible.