Canavan Disease is a genetic disorder that affect the use and breaking down aspartic acid, or nonessential amino acids that takes part in hormone production and release and in the nervous system. Canavan is caused by a mutation in the gene that lacks the enzyme aspartoacylase (ASPA), which breaks down a chemical in the brain called N-acetylaspartic (NAA). This chemical destroys myelin, fat that surrounds the white matter of the brain containing nerve fibers. Both parents have to be carriers in order for their offspring to be infected with the disease.
Symptoms are:
- Deficieny in motor developement
- Struggles in feeding
- Weak or stiff muscle tone
- Abscence of head control
Other disabilities such as blindness, paralysis, loss of hearing, and mental retardation can occur. Canavan Disease can be indentified by a blood test, screening for mutations or absence of the enzyme. Treatment mainly target to ease any symptoms of the disease, but several drugs are being researched. The disease is mostly common among Ashkenazi Jews. One out of four children could be infected with the disease. Infants do not live before 18 months, and children die before the age of 10. But several are able to survive into their teens and twenties.
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