Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 296-299, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-308807
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>MS/MS was used to examine 552 blood samples from high risk cases of IEM who came from 8 hospitals in Shijiazhuang, Hebei Province.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>MS/MS can be used to screen and classify IEM.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Projetos Piloto
/
Risco
/
Diagnóstico
/
Espectrometria de Massas em Tandem
/
Erros Inatos do Metabolismo
/
Métodos
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2011
Tipo de documento:
Artigo
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