Canavan disease


[Myrtle May Moore Canavan, U.S. pathologist, 1879-1953]
A rare inherited neurodegenerative disorder, one of the lysosomal storage diseases.

The disease most commonly occurs in Jewish families of Ashkenazi descent.

The disease is caused by a lack of an enzyme (aspartoacylase) needed to metabolize N-acetyl-aspartate (NAA). Excessive buildup of NAA in the white matter of the brain causes the symptoms of the disease.

Affected children have difficulties with posture, feeding, muscle tone, seizures, and mental retardation. Symptoms usually become apparent in the first year of life. Developmental delays and failure to meet psychomotor milestones in childhood are rapidly followed by brain atrophy and early mortality.

Gene therapy holds promise for enhancing the activity of aspartoacylase and reducing the accumulation of NAA in the brain.

The prognosis is poor: patients usually die before 4 years of age, but may survive into their 20s.

Families of affected children should seek genetic counseling and screening. Resources for support include the Canavan Foundation and the National Tay-Sachs and Allied Diseases Association.

SYN: SEE: aspartoacylase deficiency; SEE: Canavan-van Bogaert-Bertrand disease

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