What is the Canavan Disease

The Canavan Disease

What is the Canavan Disease?

The Canavan Disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid.

How does the Canavan Disease happen?

Canavans disease has been classified as one group of a genetic disorder which is known as the leukodystrophies. Recent research has indicated that the cells in the brain are responsible for making myelin sheaths which is known as the oligodendrocytes. Oligodendrocytes cannot properly complete the critical development tasks. Myelin sheaths are the fatty covering that act as the insulators around nerve fibers in the brain. As well as providing nutritional support for the nerve cells. In Canavan Disease many oligodendrocytes do not mature but instead they die. When leaving the nerve cell projections known as axons vulnerable and unable to properly functions. Canavan disease is caused by the mutation in the gene for an enzyme called aspartoacylase. Aspartoacylase is something that acts to break down the concentrated brain chemical known as the N-acetyl-aspartate.

Symptoms of the Canavan disease!

Symptoms of the Canavan disease first appears in the first 3 to 6 months of life and progress rapidly. The symptoms include lack of motor development, feeding difficulties, abnormal muscle tone which is weakness and stiffness. Also a very large uncontrollable head. Loss of hearing and blindness may occur. The disease is inherited in an autosomal recessive manner.

How to test the Canavan disease?

Canavan disease can be identified by a simple prental blood test that screens for the missing enzyme or for the mutations in the gene that controls aspartoacylase. Although both parents have to be carries of the defective gene in order for child to be effected by the disease. When both parents are found to carry the disease there is a one in four chance with each pregnancy that the child will be effected with.

Can the disease be cured?

The disease causes progressive brain atrophy. There is no cure, and there is also no standard course of treatment. Death usually occurs before the age of 10. Although some children may survive until the their teens and/or their twenties.