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| Establishment of Reference Range of Inherited Metabolic Disease Screening in Henan Province |
| Population and Family Planning Science and Technology Research Institute of Henan Province, Key Laboratory of Birth Defect Prevention of State Health and Family Planning Commission, Henan Key Laboratory of Population Defects Intervention, Zhengzhou, Henan Province, 450002 |
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Abstract Objective: Establishment of the reference range of amino acid and carnitine contents indry blood spots from neonates in henan region. Methods: A non-derivative Amino Acids Tandem Mass Spectrometry Kit was used for screening 22 811 samples for neonatal inherited metabolic disease in henan province. SPSS19.0 was used for statistical analysis according to 99.5% reference interval. Results： The normal reference value（μmol/L）of neonatal inherited metabolic disease were: VAL46.09-253.50, TYR12.47-269.44, PHE21.35-98.61, MET4.92-35.48, LEU58.30-331.11, GLY84.56-1180.56, CIT4.43-32.70, ARG0.68-47.35, ALA130.86-811.17, ORN34.73-334.14, PRO73.18-386.80. Conclusion：The establishment of the normal reference range of 11 amino acids in neonatal dry blood spot in Henan Province, will provide theoretical basis for laboratory diagnosis of inherited metabolic disease screening in this area.
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