3 doctors weighed in:

What kind of gene mutation is canavan disease?

3 doctors weighed in
Dr. James Ferguson
Pediatrics
2 doctors agree

In brief: Recessive defect

Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase.
Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems.

In brief: Recessive defect

Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase.
Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems.
Dr. James Ferguson
Dr. James Ferguson
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