Abstract:OBJECTIVE: To study the application of tandem mass spectrometry (MS/MS) in the selective screening of inborn errors of metabolism (IEM) in high risk children and to understand the positive rate and types of IEM. METHODS: MS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province. RESULTS: Sixty-four children (11.6%) were confirmed with IEM by the MS/MS, including 33 cases of methylmalonic acidemia or propionic acidemias, 2 cases of phenylketonuria, 3 cases of carnitine palmotoyl transferase I deficiency, 1 case of long-chain acyl-CoA dehydrogenase deficiency, 2 cases of medium-chain acyl-CoA dehydrogenase deficiency, 6 cases of maple syrup urine disease, 2 cases of short-chain acyl-CoA dehydrogenase deficiency, 2 cases of glutaric acidemia type I, 2 cases of isovaleric acidemia, 2 cases of homocystinuria, 4 cases of carnitine deficiency, 1 case of tyrosinemia, 1 case of argininosuccinic aciduria, 2 cases of citrullinemia and 1 case of argininemia. CONCLUSIONS: MS/MS can be used to screen and classify IEM.
LOU Yan,YIN Na,CHEN Feng-Qin et al. Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk[J]. CJCP, 2011, 13(4): 296-299.
[1]Saudubray JM, Nassogne MC, de Lonlay P, Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview[J]. Semin Neonatol, 2002, 7 (1): 3-15.
[5]Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, et al. The tandem mass spectrometry newborn screening experience in North Carolina: 19972005[J]. J Inherit Metab Dis, 2006, 29(1): 76-85.
[10]Cleary M, Green A. Developmental delay: when to suspect and how to investigate for an inborn error of metabolism[J]. Arch Dis Child, 2005, 90(11):1128-1132.