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Canavan Disease
Alternate Names : Aspartoacylase Deficiency, Spongy Degeneration of the Brain
Definition Canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration of the white matter of the brain.
Overview, Causes, & 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.
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• Definition
• Canavan Disease Overview, Causes, & Risk Factors
• Canavan Disease Symptoms & Signs
• Canavan Disease Prevention
• Canavan Disease Diagnosis & Tests
• Canavan Disease Treatment
• Canavan Disease Prognosis
• Canavan Disease Complications
• Canavan Disease Support Groups
• Calling Your Health Care Provider
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Tests & Exams
• Cranial CT Scan
• CSF Chemistry
• MRI of the Head
• Urine Chemistry
Other Topics
• Aspartic Acid
• Autosomal Recessive
• Central Nervous System
• Enzyme
• Genetic Counseling and Prenatal Diagnosis
• Hypotonia
• Increased Head Circumference
• Joint Pain
• Seizures
• Swallowing Difficulty
• White Matter of the Brain
Review Date : 8/6/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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