Canavan disease, also called Canavan–van Bogaert–Bertrand disease, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy.
Genes:
ASPA
Disorders:
Leukodystrophy
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
