Canavan Disease

By: Daijah Fuller

define canavan disease

canavan disease is an inherited condition that effects the breakdown and use(metabalism) of aspartic acid. death occures at 18 months of age. some people live until teen or rarely young adult.

causes of canavan disease

this disease is inherited.Most common in Jews than is general population. The lack of enzyme, Aspartoacylase,leads to build up of material called N-acetyaspartic acid in the brain. This causes the white matter in the brain to breakdown.

symptoms of canavan disease

1.) abnormal structures

2.) increasing head size

3.) poor muscle tone

4.) poor visual

5.) vomiting

6.) seizures

7.) swallowing difficulty

8.) blackflow of food material into the nose

9.) lack of head control

signs and tests of canavan disease

Signs

1.) exaggerated reflexes

2.) joint stiffness

3.) loss of tissue of optic nerve of the eye

1.) blood chemistry

2.) CSF chemisrty

3.) genetcin test for asoartoacylase gene mutation

4.) head MRI scan

4.) urine chemistry

prevention

genetic conclusion is recommended who wants to have children and have family history of Canavan Disease. counseling should be considered if both parents are Ashkenazi Jew descent. Fir this group DNA testing can almost always tell weather one or both parents are a carrier.

a diagnosis may be made before the baby is born(prenatal diagnosis) by the testing amniotic fluid.