Of the 72 variants detected, the highest carrier rate for single variants was 4.17% for the known variant of MMACHC, NM_015506: exon4 c.609G>A, which is associated with methylmalonic aciduria and homocystinuria, cblC type (OMIM#277400), and the inheritance was autosomal recessive. This evidence concerns the gene MMACHC and Methylmalonic aciduria.