Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)--Report of Two Novel and Two Known Mutations from the Indian Subcontinent
The Indian Journal of Pediatrics, 08/20/2012
Bijarnia S et al. – Molecular characterization of Canavan disease helps identify the cause at genetic level, thus confirming diagnosis and enabling identification of carriers in the family. Though enzyme assay and NAA measurement allows diagnosis and prenatal diagnosis of Canavan diasease, molecular methods have the advantage of bringing accuracy in prenatal testing with an earlier result. This is the first case report of mutation studies in Canavan disease from Indian subcontinent.