As 19 cases with the mutations in phenylalanine hydroxylase (<i>PAH</i>), solute carrier family 22 member 5 (<i>SLC22A5</i>), and methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria (<i>MMACHC</i>) genes, respectively, it suggested that mutations in the <i>PAH</i>, <i>SLC22A5</i>, and <i>MMACHC</i> genes are the predominant causes of IEMs, leading to the high incidence of phenylketonuria, primary carnitine deficiency, and methylmalonic acidemia, respectively.
Two novel MMACHC variants were identified, and prenatal genetic diagnosis is an accurate and convenient method that helps avoid the delivery of combined methylmalonic aciduria and homocystinuria patients.
Patients with cblC deficiency were homozygous or compound heterozygotes for mutations in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene.
Using bioinformatics, a full complement of mammalian homologues for the conversion of propionyl-CoA to succinyl-CoA in the genome of C. elegans, including propionyl-CoA carboxylase subunits A and B (pcca-1, pccb-1), methylmalonic acidemia cobalamin A complementation group (mmaa-1), co(I)balamin adenosyltransferase (mmab-1), MMACHC (cblc-1), methylmalonyl-CoA epimerase (mce-1) and methylmalonyl-CoA mutase (mmcm-1) were identified.