You et al. in 2014 [40] and Gupta et al. in 2015 [35] successfully applied NIPD, using haplotype-based and Sanger sequencing methods, respectively, on maple syrup urine disease, caused by mutations in genes BCKDHA, BCKDHB, DBT encoding E1α, E1β, and E2 subunits of enzyme complex, branched-chain alpha-ketoacid dehydrogenase (BCKDH). The gene discussed is DHTKD1; the disease is maple syrup urine disease.