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Alternative NamesSpongy degeneration of the brain; Aspartoacylase deficiency
Definition Return to top
Canavan disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid.
Causes Return to top
Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population.
The lack of the enzyme, aspartoacylase, leads to a buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down (deteriorate).
Symptoms Return to top
Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.
Exams and Tests Return to top
Treatment Return to top
Treatment aims to ease the symptoms of the disease. There is no specific treatment.
Support Groups Return to top
Additional information and resources are available from:
Outlook (Prognosis) Return to top
With Canavan disease, the central nervous system breaks down. Patients are likely to become disabled.
Death often occurs before 18 months of age. However, some patients live until they are teenagers or, rarely, young adults.
Possible Complications Return to top
This is often a fatal disorder. It includes severe disabilities such as:
When to Contact a Medical Professional Return to top
Call your health care provider if your child has any symptoms of Canavan disease.
Prevention Return to top
Genetic counseling is recommended for people who want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost always tell if one or both parents is a carrier.
References Return to top
Rezvani I. Defects in Metabolism of Amino Acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.Update Date: 5/15/2008 Updated by: Chad Haldeman- Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.