Analysis of the Current Status of Neonatal Genetic Metabolic Disease Screening in Foshan Area of Guangdong Province From 2018 to 2023
Objective:To analyze the current status of neonatal genetic metabolic disease(MD)screening in Foshan area of Guangdong Province from 2018 to 2023.Methods:The MD screening status of 329873 newborns,the diagnosis of MD children,the gene mutation of MD children and the changes of amino acid structure were analyzed.Results:The proportion of positive screening in children with gestational age ≤32 w,male sex and weight≤ 1500 g were higher than those in children with gestational age of 33-36w,≥ 37 w,female sex and weight of 1501-2499 g and＞2500 g(P＜0.05).Among all kinds of MD children,the top three diseases were primary camitine deficiency,Hitlin protein deficiency and 3-methylcrotonyl-CoA dehydrogenase deficiency.The children with gene mutations in-cluded the c.852_855delTATG mutation site of SLC25A13 gene in Citrine protein deficiency,the c.51C＞G mutation site of SLC22A5 gene in primary carnitine deficiency,and the c.1087C＞T mutation site of citrullinemia type Ⅰ ASS1 gene.Except for one case of X-linked dominant inheritance(XL)in children with propionic acidemia and one case of ornithine carbamyl transferase deficiency,the inheritance patterns of the other children were autosomal recessive(AR).Conclusion:The high-risk areas for neonatal MD screening in Foshan,Guangdong Province from 2018 to 2023 are primary carnitine deficiency,hitlin protein deficiency,and 3-methylcrotonyl-CoA dehydrogenase deficiency.And hitlin protein deficiency,primary carnitine deficiency,and citrullinemia are all prone to genetic muta-tions,and are mainly inherited through AR mode.
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