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INHERITED MONOGENIC DISEASES

           

Canavan Disease

Canavan disease is a hereditary illness that affects the breakdown and use (metabolism) of aspartic acid. The lack of the aspartoacylase enzyme leads to an accumulation of a material called N-acetylaspartic acid (NAA) in the brain which will cause the white material of the brain to deteriorate.

Canavan disease is a leukodystrophy is a rare disease that results in the progressive decline of the myelin, or “”white matter,”” of the brain.Myelin works by isolating and protecting the axons that send signals from the brain to the rest of the body. Leukodystrophy is caused by genetic defects that lead to an imperfect growth or development of the myelin layer that covers the axon, a part of the nerve cell.

GENE OR REGION STUDIED


  • ASPA
  • SPATA22

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