Finally, two compound heterozygous mutations were found in CPS1 of this child, the missense mutation c.1145 C > T (p.Pro382Leu) (NM_001875) and the non-frame shift mutation c.4080_c.4091delAGGCATCCTGAT (p.Lys1360_Ile1364delinsLys) (NM_001875), where c.1145 C > T is a reported pathogenic mutation in CPS1D [4], while the non-shifted mutation c.4080_c.4091delAGGCATCCTGAT is found in OMIM, UCSC, HGMD, dbSNP, 1000 Genome, ExAC and gnomAD publications and public databases are new and not reported. The gene discussed is CPS1; the disease is carbamoyl phosphate synthetase I deficiency disease.