Canavan disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid.
Canavan disease is passed down (inherited) through families. 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 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:
Tests:
Treatment mostly aims to ease the symptoms of the disease. Lithium and other drugs are being investigated.
Additional information and resources are available from:
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.
This is often a fatal disorder. It includes severe disabilities such as:
Call your health care provider if your child has any symptoms of Canavan disease.
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 whether one or both parents is a carrier.
A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid.
Spongy degeneration of the brain; Aspartoacylase deficiency
Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.
Updated by: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
MedlinePlus Topics
Read More
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2012, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM Health Solutions.