Establishment of a reference interval for amino acid and acylcarnitine in normal children's dry blood spots by tandem mass spectrometry

Abstract

Objective To establish a medical reference range for the detection of amino acid and acylcarnitine tandem mass spectrometry in blood spots of normal children in this laboratory, and to provide evidence for the interpretation of test results. Methods Using the tandem mass spectrometry kit (non-derivative method), 3 642 children's dry blood filter papers were sent to the Children's Hospital, Zhengzhou University for screening of genetic metabolic diseases. Results The reference intervals of various amino acids and acylcarnitine were as beblow: C0 10.22-69.90 μmol/L, C2 4.14-43.41 μmol/L, C3 0.29-4.00 μmol/L, C4 0.02-0.39 μmol/L, C5 0.01-0.21 μmol/L, C6 0.01-0.10 μmol/L, C8 0.00-0.15μmol/L, C10 0.00-0.19 μmol/L, C12 0.01-0.10 μmol/L, C14 0.01-0.23 μmol/L , C16 0.18-2.66 μmol/L, C18 0.00-1.11 μmol/L; Gly 92.39-717.56 μmol/L, Ala 71.60-622.21 μmol/L, Pro 61.12-297.14 μmol/L, Val 47.21-303.31 μmol/L, Leu 44.06-362.47 μmol/L, Orn 36.30-276.85 μmol/L, Met 2.82-50.79 μmol/L, Phe 14.62-81.89 μmol/L, Arg 0.71-58.95 μmol/L, Cit 5.02-40.46μmol/L, Tyr 18.42-272.73 μmol/L. Conclusion The reference intervals of various amino acids and acylcarnitines in children of this laboratory are established, which provides a reference for clinical diagnosis and treatment of genetic metabolic diseases. Key words: Tandem mass spectrometry; Non-derivatization; Newborn screening