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Canavan disease is also called aspartoacylase deficiency

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14y ago

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Related Questions

What is aspartoacylase deficiency also called?

Canavan disease is also called aspartoacylase deficiency


What is spongy degeneration of the brain also called?

Spongy degeneration of the brain is also called Canavan disease


What is infantile spongy degeneration of the brain also called?

Infantile spongy degeneration is also called Canavan disease


Who is Canavan disease named for?

Canavan disease is named after Dr. Myrtelle Canavan


Do people from Saudia Arabia have Canavan disease?

People of Saudi Arabian descent also have a relatively high risk of Canavan disease


Why is Canavan disease called spongy degeneration of the brain?

Canavan disease is sometimes called spongy degeneration of the brain since it is characterized by a sponginess or swelling of the brain cells and a destruction of the white matter of the brain


Are their any charities for the canavan disease?

Jacob's Cure is one of the largest funders of Canavan disease research in the United States and also provides family support.


Who was the founder of the canavan disease?

Dr. Myrtelle Canavan


Is Canavan disease caused by a mutation?

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.


When was Canavan disease named?

It was not until 1949, that Canavan disease was recognized as a unique genetic disease by Van Bogaert and Betrand


Do people with Canavan disease have large heads?

People with Canavan disease typically have disproportionately large heads


Does Canavan disease cause blindness?

Some people with Canavan disease may eventually become blind