Among 7,461 hospitalized high-risk infants with suspected genetic metabolic diseases, 19 cases were diagnosed as genetic metabolic diseases, including eight cases of amino acid metabolic diseases (1/933), of which there were four cases of CTLN2 (1/1,865), two cases of ornithine carbamoyltransferase deficiency (1/3,731), one case of tyrosinemia (H-TYR; 1/7,461), and one case of carbamyl phosphate synthase I deficiency (CPS1; 1/7,461). This evidence concerns the gene CPS1 and amino acid metabolism disease.