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Canavan disease is an autosomal recessive genetic condition
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∙ 13y ago
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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.
Is canavan disease sex-linked?
Canavan disease is not a sex-linked genetic disorder. It is an autosomal recessive disorder, meaning that both parents must pass on a copy of the mutated gene in order for an individual to inherit the disease.
What is the age group canavan disease affect?
Signs of Canavan disease normally become apparent around 6 months of age when an infant is not meeting normal milestones such as holding up his/her head. The lifespan for children with Canavan disease is generally 3-10 years if untreated, although some children have lived into their twenties.
What was the first human trait to be inherited by Mendelian rules?
Huntington's disease
Which inherited disease is caused by faulty ion channels?
Cystic fibrosis is one.
Is Canavan disease a inherited trait or passed on genetically?
yes
Who is Canavan disease named for?
Canavan disease is named after Dr. Myrtelle Canavan
Who was the founder of the canavan disease?
Dr. Myrtelle Canavan
What is Canavan disease also called?
Canavan disease is also called aspartoacylase deficiency
What type of inherited condition is Canavan disease?
Canavan disease, also referred to as spongy degeneration of the CNS, is autosomal recessive, secondary to mutations in the aspartoacylase gene (ASPA). Symptoms typically begin two to four months after birth, with death occurring by 10 years of age
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
Does Canavan disease cause blindness?
Some people with Canavan disease may eventually become blind
Do people with Canavan disease have large heads?
People with Canavan disease typically have disproportionately large heads
How can carriers of Canavan disease be found?
DNA testing is the only means of identifying carriers of Canavan disease
Is canavan disease dominant or ressesive?
I was doing a presentation on Canavan Disease and had a lot of trouble finding wether it was dominant or recessive. I found the answer and thought i should make it easier for others. Canavan Disease is recessive
Do infants with Canavan disease appear normal?
Most infants with Canavan disease appear normal for the first month of life
Do people from Saudia Arabia have Canavan disease?
People of Saudi Arabian descent also have a relatively high risk of Canavan disease
