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| Establishment of the normal reference intervals of 11 neonatal amino acids and 31 neonatal acylcarnitines in Henan area |
| Academy of Reproductive Health Science and Technology of Henan Province, National Health Commission Key Laboratory of Birth Defects Prevention, Henan Key Laboratory of Population Defects Prevention, Zhengzhou, Henan Province,450002 |
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Abstract To establish the normal reference intervals of 11 neonatal amino acids and 31 neonatal acylcarnitines in Henan area based on screening genetic metabolic diseases of 52,979 neonates in Henan area. Methods: Tandem mass spectrometry was used to screening neonatal genetic and metabolic diseases by detecting the neonatal dried blood spots, and the normal reference intervals of 11 neonatal amino acids and 31 neonatal acylcarnitines were statistically analyzed. Results: A total of 7 hereditary metabolic diseases were diagnosed by detecting 149943 neonatal blood samples, which included 28 cases with phenylketonuria, 13 cases with methylmalonic acidemia, and 2 cases with citrullinemia (citrin deficiency), 2 cases with primary carnitine deficiency (maternal carnitine deficiency), 2 cases with medium-chain acyl-CoA dehydrogenase deficiency, 1 case with short-chain acyl-CoA deficiency, and 1 case with hypermethioninemia. Compared with those of the reference interval of the detecting results of Chinese clinical institutions, most of the reference intervals of amino acid and acyl car-nitine were consistent, while the reference intervals of VAL, ARG, MET, and PRO were different. Compared with those of the reference intervals in Gansu area, the reference intervals of 11 amino acids were found to be quite different. Conclusion: Through the analysis of the results of screening neonates, the reference intervals of 11 amino acids and 31 acylcarnitines by detecting the dried blood spots of normal newborns in Henan province have been established to provide evidences for screening genetic metabolic diseases in laboratory.
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