brief introduction
 

Objective to carry out screening and detection of high risk children with hereditary metabolic diseases. Methods 104 children, 77 males and 27 females, aged (418 ± 412) years, were suspected of hereditary metabolic diseases. Finger blood collection, drop on special blood collection filter paper. The dry blood filter paper, together with the known amino acid and acyl carnitine isotope internal standard, was extracted by methanol and derived from n-butanol hydrochloride. The amino acid spectrum and acyl carnitine spectrum and their concentrations in the blood filter paper were analyzed by tandem mass spectrometer. Results among 104 samples, 10 (91.6%) were positive, including 1 case of tyrosinemia, 1 case of homocysteinemia, 1 case of ornithinemia, 2 cases of methylmalonic acidemia, 1 case of propionaemia, 1 case of 32 hydroxy 32 methylglutaric acid lyase deficiency, 2 cases of medium chain acyl CoA dehydrogenase deficiency, 1 case of acyl carnitine transferase Ⅱ deficiency. Conclusion more than 30 kinds of hereditary metabolic diseases can be detected by tandem mass spectrometry, including amino acid metabolic disorder, organic acid metabolic disorder and fatty acid metabolic disorder. The screening of children with high-risk hereditary metabolic diseases is of great value.