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Canavan disease

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Alternative Names   

Spongy 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.

Symptoms include:

Exams and Tests    Return to top

Tests:

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:

Canavan Foundation

www.canavanfoundation.org

877-4-CANAVAN

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.

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