Objective To retrospectively analyze the status of neonatal tandem mass spectrometry screening for ge-netic metabolic diseases in Zhongshan City,and to understand the disease spectrum,genetic variations,and clinical manifesta-tions of genetic metabolic diseases in the local area.Methods The neonates who underwent tandem mass spectrometry screening in Zhongshan Neonatal Disease Screening Center from April 1,2014 to June 30,2023 were selected as the research subjects.The amino acid,acylcarnitine spectrum and acetone succinate concentration of neonatal heel blood dry blood filter paper were detected by non-derivative method.Positive cases were recalled for re-examination by tandem mass spectrometry,and the re-positive cases were undergo selective improvement of urine organic acid analysis,blood and urine routine,bio-chemistry,blood gas analysis,blood ammonia and gene testing based on the disease type.Ultimately,they will be diagnosed with three types of genetic metabolic disorders:amino acid,organic acid,or fatty acid oxidation disorders.Results A total of 221731 newborns were screened in 9 years,of which 2119 were positive,with a positive rate of 0.96％.Thirty seven cases of 10 genetic metabolic diseases were finally diagnosed,with an overall incidence rate of 1/5993,including 18 cases of amino acid metabolic diseases(1/12318),7 cases of organic acid metabolic diseases(1/31676),and 12 cases fatty acid oxidation disorder(1/18478).The most common diseases are 10 cases of primary carnitine deficiency,including 2 cases of maternal free carnitine deficiency,9 cases of hyperphenylalaninemia,7 cases of Citrin protein deficiency,and 6 cases of methylmalonic acidemia.Two confirmed cases of neonatal onset and ineffective rescue resulted in death,namely ornithine aminotransferase deficiency and carnitine acylcarnitine transferase deficiency.One case of primary carnitine deficiency was left untreated and died suddenly after infection.Among the surviving children,four cases of methylmalonic acidemia had neurodevelopmental delay(one severe and three mild).The growth and development of the remaining children were normal after active treatment and follow-up.Conclusion Screening for inherited metabolic diseases in newborns can significantly improve the prognosis of patients and enhance population quality through early detection,diagnosis and treatment.
inherited metabolic diseasetandem mass spectrometrynewborn screening
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