Objective To explore the incidence and disease spectrum of neonatal inherited metabolic disorders (IMDs) in parts of Sichuan,so as to provide basis for determining the screening programs and making relevant policies by the government in future. Methods A total of 39 648 newborns in Sichuan were screened for IMDs by tandem mass spectrometry (non-derivative method),and the samples with abnormal initial screening results were recalled for reexamination.Those with abnormal reexamination results would be diagnosed by urine organic acid and gene analysis. Results A total of 39 648 newborns were screened,1 594(4.02%) of whom were abnormal in the initial screening.Eventually,9 kinds of 15 cases of IMDs were diagnosed,and the total positive predictive value was 1.05%,the total incidence was 1∶2 643.The confirmed diseases included 5 cases of short-chain acyl-CoA dehydrogenase deficiency(SCADD),2 cases of primary carnitine deficiency(PCD),2 cases of methylmalonic acidemia(MMA),1 case of propionic acidemia(PA),1 case of isovaleric acidemia(IVA),1 case of 2-methylbutyrylglycinuria(MBCD),1 case of 3-methylcrotonyl CoA carboxylase deficiency(MCCD),1 case of phenylalanine hydroxylase deficiency(PKU),1 case of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD). Conclusion s There are many kinds of IMDs with higher incidence in parts of Sichuan,of which short-chain acyl-CoA dehydrogenase deficiency is the most common.Therefore,newborn screening by tandem mass spectrometry is of great significance for the early detection and diagnosis of IMDs.
Key words
tandem mass spectrometry /
inherited metabolic disorders /
newborn screening /
congenital disease
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