Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk.
- Author:
Yan LOU
1
;
Na YIN
;
Feng-Qin CHEN
;
Ya-Ying CHENG
;
Li-Jin XU
;
Fang DAI
;
Xiao-Tao SONG
Author Information
- Publication Type:Journal Article
- MeSH: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; diagnosis; Pilot Projects; Risk; Tandem Mass Spectrometry; methods
- From: Chinese Journal of Contemporary Pediatrics 2011;13(4):296-299
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSMS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province.
RESULTSSixty-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.
CONCLUSIONSMS/MS can be used to screen and classify IEM.
