in Galactosemia, having two different mutations on two alleles can lead to the disease or not?

Question

if somebody has two mutations like N314D on one allele and Q188R on the other allele, is he/she affected or not and does show the symptoms of the disease?
which tests are carried out to identify the haplotypes?

Answer 1

Galactose-1-phosphate uridyl transferase deficiency occurs in both types of mutations. So the disease expresses itself.