Canavan disease

Definition

Canavan disease is a fatal condition that affects how the body breaks down and uses aspartic acid.

Causes

Canavan disease is passed down (inherited) through families. It is more common among the Ashkenazi Jewish population 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.

Symptoms

Symptoms often begin in the first year of life. Parents tend to notice it when their child is not reaching certain developmental milestones, including head control.

Symptoms include:

Exams and Tests

A physical exam may show:

Tests for this condition include:

Treatment

There is no specific treatment available. Supportive care is very important to ease the symptoms of the disease. Lithium and gene therapy are being studied.

Support Groups

The following resources can provide more information on Canavan disease:

Outlook (Prognosis)

With Canavan disease, the central nervous system breaks down. People are likely to become disabled.

Death often occurs before 18 months of age. However, some people live until they are teenagers or, in care cases, young adults.

Possible Complications

This disorder nay cause severe disabilities such as:

When to Contact a Medical Professional

Call your health care provider if your child has any symptoms of Canavan disease.

Prevention

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 the parents are carriers.

A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid, the fluid that surrounds the womb.


Review Date: 10/26/2017
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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