This deficiency ultimately results in progressive damage to the brain and nervous system and causes mental retardation, seizures, tremors , muscle weakness, blindness and an increase in head size
Canavan disease is also called aspartoacylase deficiency
Canavan disease is also called aspartoacylase deficiency
Aspartoacylase is responsible for breaking down a substance called N-acetylaspartic acid (NAA)
When the body produces decreased levels of aspartoacylase, a build-up of NAA results
Aspartoacylase breaks down N-acetylaspartic acid
It results when the body produces less than normal amounts of a protein called aspartoacylase
Pale. (if its bad enough).
Went they make moccasins they chew on the leather to soften it.
Yes, Canavan disease is caused by a mutation in the ASPA gene. This gene provides instructions for making an enzyme called aspartoacylase, which is essential for the breakdown of a compound called N-acetylaspartate. Mutations in the ASPA gene lead to the accumulation of N-acetylaspartate in the brain, causing the characteristic features of Canavan disease.
The best thing to do is build a relationship with the teachers and work out a deficiency plan. "What can you do and what do you need to change to improve?" is what you should find out from the teachers.
The goal of gene therapy is to restore normal amounts of aspartoacylase in the brain and nervous system and prevent the build-up of NAA and the symptoms of Canavan disease
Dwarfism is zinc deficiency. hypothyroidism is iodine deficiency.