Objective To investigate the incidence of genetic metabolic diseases in different crowds in central Guangxi by retrospectively analyzing the Results of tandem mass spectrometry screening in 66 471 newborns and high-risk infants and the genetic test Results in confirmed cases. Methods Dried-blood spot specimens on filter papers of 63 190 newborns from central Guangxi area and 3 281 high-risk infants were selected from the neonatal screening center of Liuzhou Maternal and Child Health Hospital from January 2014 to April 2018.The amino acid and acyl carnitine spectrum were detected.Children with suspected Result were further confirmed by genetic methods. Results Totally 717 cases were screened as positive and 19 cases were confirmed among these 63 190 newborns,and the group incidence was 1/3 326.And 12 cases were confirmed in 57 688 infants with normal weight,with the detection rate of 1/4 807.Likewise,7 cases were confirmed in 5 502 cases with low birth weight,with the detection rate of 1/786.And 16 cases were confirmed in 3 281 high-risk infants,with the detection rate of 1/205.Totally 13 kinds of genetic metabolic diseases were confirmed in 35 cases. Conclusions Inherited metabolic disease is prevalent in central Guangxi,and infants with low birth weight are more likely to develop inherited metabolic diseases than normal weight infants.It is necessary to strengthen the screening of genetic metabolic diseases in the newborn and high-risk infants in the local area,to enhance the ability of intervention and later guidance in clinicians,thereby improving the diagnosis and treatment level and then reducing the missed diagnosis and misdiagnosis.So that the neonatal mortality and disability rate will be reduced and the quality of the population in the region will be improved.