Canavan disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid. Also called as Aspartoacylase deficiency
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 brainto 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:
Abnormal posture with flexed arms and straight legs Backflow of food material into the nose (nasal regurgitation) Feeding problems, Increasing head size,especially of the neck muscles. A lack of head control when baby is pulled from a lying to a sitting position (head lag).
Treatment mostly aims to ease the symptoms of the disease. Lithium and other drugs are being investigated.
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:
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
Additional information and resources are available from:
Last Modified : 9/14/2023
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