Tandem mass spectrometry screening of 565 182 newborns for inherited metabolic diseases in Hunan province / 中华实用儿科临床杂志

ABSTRACT

Objective@#To investigate the prevalence, mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD) by using tandem mass spectrometry screening.@*Methods@#In Hunan province, 565 182 newborns who underwent tandem mass spectrometry (MS/MS) screening for IMDs were studied, including fatty acid oxidation disorders (FAODs), amino acid disorders (AAs), and organic acidemias (OAs) between March 2013 and September 2017.For the patients with positive results, a recall screening test was performed, and the results were further confirmed by specific biochemical and genetic analysis.For all the patients with IMD, guideline-directed medical treatment was administrated, and the follow-up outcomes was evaluated.@*Results@#A total of 107 newborns were diagnosed with IMDs, with an overall prevalence of 1∶5 282, including 65 newborns with FAODs (1∶ 8 695), 29 newborns with AAs (1∶19 489), and 13 newborns with OAs (1∶43 476). The primary carnitine deficiency(PCD)(44 cases), hyperphenylalaninemia (HPA)(17 cases), short-chain acyl-CoA dehydrogenase deficiency(SCADD)(12 cases), citrine deficiency(NICCD)(6 cases) were the 4 most common IMDs in Hunan province.The hotspot mutations in SLC22A5 gene of PCD were c. 51C>G(25.3%), c.1400C>G(23.0%), and c. 760C>T(13.8%); in PAH gene of HPA were c. 728G>A (22.2%) and c. 721C>T(14.8%); in ACADS gene of SCADD was c. 1031A>G(38.9%); and in SLC25A13 gene of NICCD was c. 851_854delGTAT (50.0%), respectively.The remaining IMDs were rare, and the hotspot mutations were unclear right now.During a mean follow-up of (26.1±5.6) months, 7 patients died, 4 patients suffered an intelligent disability, whereas the remaining 96 subjects had normal physical and intelligent development.@*Conclusions@#The overall prevalence of IMDs is not fairly low in Hunan province.Newborn screening and early appropriate management can significantly improve the outcomes of these patients.