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Is Canavan disease inherited?
Yes, Canavan disease is an inherited genetic disorder caused by mutations in the ASPA gene. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.
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.
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.
Is hemophilia a dominantrecessiv or a sex linked trait?
Sexlinked and recessive.
Does sickle cell disease require two allele or multiple alleles?
Sickle cell disease is an autosomal reccessive sexlinked trait so, a female msut have 2 recessive alleles to have the trait and a male needs only one allele (this is because there is no corresponding site for this allele on the Y chromosome. The female can be a carrier of the disorder with the defective allele on one X chromosome and a normal allele on the other X chromosome. Female carrriers can have a mixture of normal and abnormal redblood cells.
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
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
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
Why was Dr. Myrtelle Canavan given a disease?
The credit went to Dr. Canavan because his initial description of the disease dominated the medical literature
Is Canavan disease fatal?
Although most people with Canavan disease die in their teens, some die in childhood and some live into their twenties and thirties
