Clinical study on screening carnitine absorption deficiency in neonates by tandem mass spectrometry / 中华实用儿科临床杂志

Objective@#To estimate the levels of free carnitine and acylcarnitine in neonates, and summarize the incidence and clinical characteristics of carnitine absorption deficiency in Xuzhou.@*Methods@#Between November 2015 and December 2017, 216 903 newborns were recruited with carnitine absorption deficiency screened via tandem mass spectrometry in Xuzhou.They were divided into different groups according to gestational age, birth body weight, blood collecting time and season, in which the group with gestational age <37 weeks was selected as the premature delivery group, and the group with gestational age 37-41+ 6 weeks as the normal gestational age group for gestational age analysis, while the group with the birth body mass <2 500 g was selected as low birth body mass group and the group with the birth body mass of 2 500-3 999 g as normal birth body mass group for body mass analysis.SPSS 16.0 software was used for data analysis to clarify the influence of the above factors on the detection of carnitine indexes by tandem mass spectrometry.DNA sequencing was performed to confirm the diagnosis and analyze the relevant pathogenic genotypes in children with positive screening, and these confirmed individuals were followed up.@*Results@#There was no statistical difference in the levels of C3, C8 and C102 between preterm infants and normal body mass infants in the gestational age group(all P>0.05), but other carnitine levels had statistically significant differences(all P<0.05). The difference of C102 level between the different birth weight groups was not statistically significant(P>0.05), but that of other carnitine levels were statistically significant(all P<0.05). There was no significant difference in the level of C182 between different blood collection time(P>0.05). The levels of free carnitine and acylcarnitine between the different season groups had statistically significant differences(all P<0.05). Primary carnitine deficiency was diagnosed in 10 cases, including 7 cases of maternal carnitine absorption deficiency.The incidence in Xuzhou was approximately 121 690.The pathogenic genotype showed a specific regional distribution characteristic in Xuzhou, in which pathogenic mutation type c. 1400C >G was the most common one.@*Conclusions@#Some factors play a role in neonatal screening for carnitine absorption deficiency by tandem mass spectrometry including gestational age, birth body weight, blood collecting time and season.Pathogenic genes present a regional characteristic in Xuzhou and maternal carnitine absorption deficiency with a higher rate, the clinical attention should be paid to screening for maternal carnitine absorption deficiency.

Clinical study on screening carnitine absorption deficiency in neonates by tandem mass spectrometry / 中华实用儿科临床杂志

Objective To estimate the levels of free carnitine and acylcarnitine in neonates,and summarize the incidence and clinical characteristics of carnitine absorption deficiency in Xuzhou. Methods Between November 2015 and December 2017,216 903 newborns were recruited with carnitine absorption deficiency screened via tandem mass spectrometry in Xuzhou. They were divided into different groups according to gestational age,birth body weight, blood collecting time and season,in which the group with gestational age <37 weeks was selected as the premature de-livery group,and the group with gestational age 37-41+6 weeks as the normal gestational age group for gestational age analysis,while the group with the birth body mass <2 500 g was selected as low birth body mass group and the group with the birth body mass of 2 500-3 999 g as normal birth body mass group for body mass analysis. SPSS 16. 0 software was used for data analysis to clarify the influence of the above factors on the detection of carnitine indexes by tandem mass spectrometry. DNA sequencing was performed to confirm the diagnosis and analyze the relevant pathogenic geno-types in children with positive screening,and these confirmed individuals were followed up. Results There was no sta-tistical difference in the levels of C3,C8 and C10: 2 between preterm infants and normal body mass infants in the ges-tational age grou(p all P>0. 05),but other carnitine levels had statistically significant differences(all P<0. 05). The difference of C10: 2 level between the different birth weight groups was not statistically significant(P>0. 05),but that of other carnitine levels were statistically significant(all P<0. 05). There was no significant difference in the level of C18: 2 between different blood collection time(P>0. 05). The levels of free carnitine and acylcarnitine between the different season groups had statistically significant differences(all P<0. 05). Primary carnitine deficiency was diag-nosed in 10 cases,including 7 cases of maternal carnitine absorption deficiency. The incidence in Xuzhou was approxi-mately 1: 21 690. The pathogenic genotype showed a specific regional distribution characteristic in Xuzhou,in which pathogenic mutation type c. 1400C >G was the most common one. Conclusions Some factors play a role in neonatal screening for carnitine absorption deficiency by tandem mass spectrometry including gestational age,birth body weight, blood collecting time and season. Pathogenic genes present a regional characteristic in Xuzhou and maternal carnitine absorption deficiency with a higher rate,the clinical attention should be paid to screening for maternal carnitine absorp-tion deficiency.