Objective To establish the reference interval of 31 kinds of acyl carnitines in the dry blood filter paper of Xuancheng newborn infants to provide diagnostic basis for the clinical diagnosis of fatty acid and organic acid genetic metabolic diseases. Methods 6093 newborn infants’ filter paper dried blood samples were selected from January to June in 2020 in Xuancheng City.The levels of 31 kinds of acyl carnitines were determined by non-derivatized tandem mass spectrometry.Statistical analysis was performed by SPSS 22.0 software.A single sample Kolmogorov-Smirnov test was used to judge the normality of the data.The percentile method was used to formulate the reference interval,and the 99.5th percentile value and the 0.5th percentile value were selected as the upper and lower limits of the cut-off value. Results The 31 kinds of acylcarnitine in Xuancheng City were non-normal distributed,and the reference intervals P0.5~P99.5 were (μmol/L) : free carnitine (9.11-48.60),acetylcarnitine (4.01-37.12),propionyl carnitine (0.54-4.30),malonyl carnitine (0.03-0.27),butyl carnitine (0.10-0.46),methyl propionyl carnitine (0.09-0.38),isovaleryl carnitine (0.05-0.36),methyl crotonyl carnitine (0.00-0.01),glutaric carnitine (0.05-0.19),hexyl carnitine (0.01-0.09),hexanoyl carnitine (0.03-0.30),octanoyl carnitine (0.02-0.14),octenyl carnitine (0.05-0.28),decanoyl carnitine (0.02-0.21),decenoyl carnitine (0.02-0.14),decenediacyl carnitine (0.00-0.03),dodecyl carnitine (0.02-0.23),dodecyl carnitine Alkali (0.01-0.17),tetradecanoyl carnitine (0.06-0.34),tetradecenoyl carnitine (0.03-0.21),tetradecadienoyl carnitine (0.01-0.04),3-hydroxytetradecyl carnitine (0.00-0.03),cetyl carnitine (0.71-6.14),cetenoyl carnitine (0.03-0.36),3-hydroxycetenoyl carnitine (0.01-0.10),3-hydroxycetanoyl carnitine (0.01-0.04),octadecanoyl carnitine (0.28-1.62),octadecenoyl carnitine (0.49-2.45),3-hydroxyoctadecenoyl carnitine (0.01-0.03),octadecdienoyl carnitine (0.06-0.53),3-hydroxyoctadecanoyl carnitine (0.00-0.02). Conclusion The reference interval of 31 kinds of acyl carnitines in neonatal filter paper dry blood tablets in Xuancheng City was established by non-derivatived tandem mass spectrometry,which can provide diagnostic reference basis for clinical diagnosis of fatty acid and organic acid genetic metabolic diseases in this area,and is more conducive to population screening of neonatal genetic metabolic diseases.
Key words
Neonatal /
Non-derivatized /
Acyl carnitine /
Reference range interval
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