Canavan disease is an inherited condition that affects the breakdown and use (metabolism) of
Spongy degeneration of the brain; Aspartoacylase deficiency
Causes, incidence, and risk factors
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
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.
- Abnormal posture with flexed arms and straight legs
- Backflow of food material into the nose (nasal regurgitation)
- Feeding problems
- Increasing head size (
- Lack of head control when baby is pulled from a lying to a sitting position (head lag)
Poor muscle tone, especially of the neck muscles
- Poor visual tracking or blindness
- Severe mental retardation
- Swallowing difficulties
Signs and tests
- Exaggerated reflexes (hyperreflexia)
- Joint stiffness
- Loss of tissue in the optic nerve of the eye (optic atrophy)
- Blood chemistry
- CSF chemistry
- Genetic testing for aspartoacylase gene mutations
- Head CT scan
- Head MRI scan
- Urine chemistry
Treatment mostly aims to ease the symptoms of the disease. Lithium and other drugs are being investigated.
Additional information and resources are available from:
- Canavan Foundation:
- Jacob's Cure:
With Canavan disease, the
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:
- Inability to walk
- Mental retardation
Calling your health care provider
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
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.