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C anavan disease

C anavan disease. this is scarlet . Causes of Canavan disease. Canavan disease is caused by a mutation in the gene for an enzyme called aspartoacylase. The mutation is caused because the baby is missing the gene for the aspartoacylase enzyme.

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C anavan disease

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  1. Canavan disease this is scarlet

  2. Causes of Canavan disease • Canavan disease is caused by a mutation in the gene for an enzyme called aspartoacylase. • The mutation is caused because the baby is missing the gene for the aspartoacylase enzyme. • Canavan disease is a sex-linked illness, but both parents must be carriers of the recessive gene mutation in order for a child to get it. Even then, it is only a 25% chance the baby will have it. Although anyone can carry the mutation, it is most common in people from Ashkenazi Jewish descent.

  3. Pedigree normal carrier normal carrier carrier carrier affected

  4. Canavan disease causes • In Canavan disease, the enzyme aspartoacyclase which breaks down the concentrated brain chemical N-acetyl-aspartate. The enzyme aspartoacylase is coded in the ASPA gene. the mutation causes a lack of enzyme activity, which causes build up of the chemical N-acetyl-aspartate. the N- acetyl- aspartate acid eats away at the white matter in the brain, which ultimately causes the effects of Canavan disease.

  5. Effects of Canavan disease • The main effects of Canavan disease are: • Lack of motor development • abnormal muscle tone (weakness or stiffness) • An abnormally large and poorly controlled head. • feeding difficulties. • (paralysis, blindness, and/or hearing loss may also occur.)

  6. Children can first be diagnosed with Canavan disease in their first 3-6 months of life. Most people who inherit Canavan disease do not survive childhood. Sometimes, someone can live to reach about 22 years old, but it is very rare. • Children with Canavan Disease will have a very tough time surviving with their disorders. They will not be able to hold up their own head or maybe even walk. Children with this disease will not be able to do even the most basic functions, like waving to someone they know. when you imagine having canavan’s disease, imagine all of your basic functions not being able to work. imagine hardly being able to move at a fast pace. Children with this disease definitely will have a harder life than people could imagine living.

  7. Treatments and cures • There are no cures to Canavan disease, but researchers are investigating medications such as Lithium, as possible treatments. An organization that is devoted to finding the cure and possible treatments is Jacob’s Cure, a company founded by a mother who has a child diagnosed with Canavan disease.

  8. sources • http:// jacobscure.org. • ww.medicinenet.com • www.nih.gov/

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