Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications

► This study establishes biochemical and mutation database for GALT gene in India. ► A negative correlation observed between GALT activity and gal-1-phosphate levels. ► 10 novel mutations were identified in GALT gene. ► N314D was the most common genetic change observed in our population. ► Mutations exerted their effects on H-bonds, salt bridges and secondary structures.