MMACHC and homocystinuria: Cruxome successfully identified a likely pathogenic (NM_015506.2: c.80 A > G: p.Q27R) and a pathogenic (NM_015506.2: c.217 C > T: p.R73X) variant in the MMACHC gene, which is responsible for methylmalonic aciduria and homocystinuria [40] (Supplemental Table 1).