MMACHC and maple syrup urine disease: In two other newborns NB-11 and NB-12 with a suspected diagnosis of maple syrup urine disease (Table 1), no DNA variants were detected in any of the three known causative genes BCKDHA, BCKDHB or DBT. However, in NB-11, compound heterozygous variants c.458G > A (p.R153Q, non-conservative amino acid change) and c.799C > T (p.R267W, non-conservative amino acid change) of uncertain significance were detected in the MMACHC gene associated with methylmalonic aciduria.