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Tay-Sachs, Canavan and related diseases

Canavan Causes

Cause

Canavan disease is caused by the absence of a vital enzyme called aspartoacylase (ASPA). ASPA breaks N-acetylaspartate acid (NAA) into building blocks essential for building myelin. Myelin is a fatty membrane (also known as white matter) that forms a proactive coating around each nerve ensuring the nerve functions properly.

Gene Location

The gene that causes Tay-Sachs is located on chromosome 17, specifically 17pter-p13.

Inheritance

Canavan is an autosomal recessive genetic disorder. Both parents must be a carrier for children to be at risk. If both parents are carriers, there is a 25% chance with each pregnancy the child will be affected.

Read more About Inheritance

 

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