Biochemical tests for the detection of metabolites produced in inborn errors of metabolism

被引:0
|
作者
Mesa Herrera, Natalia Regina [1 ]
Carmona Carmona, Cristian Andres [2 ]
Burgos Herrera, Luis Carlos [1 ]
机构
[1] Univ Antioquia, Fac Med, Dept Fisiol & Bioquim, Bioquim & Errores Innatos Metab, Medellin, Colombia
[2] Univ Antioquia, Escuela Microbiol, Microbiol & Bioanal, Medellin, Colombia
关键词
Inborn Errors of Metabolism; Nitroprusside;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Inborn errors of metabolism (IEM) are more than 550 diseases in which there is a deficiency or absence of proteins with enzymatic, transporter, receptor or structural activity. Individually these diseases are rare, but because of their wide variety they are, considered together, the largest neonatal disease. To detect metabolites produced in IEM qualitative tests can be used. They are easily accessible and fast to carry out, and serve as presumptive elements before proceeding to more specialized tests or to focus diagnosis. Given their importance for the early diagnosis of IEM, this article aims to describe the functioning of the following biochemical tests: dinitrophenylhydrazine, resorcinol, nitrosonaphtol, nitroprusside and Hoesch, emphasizing in the metabolites that they detect.
引用
收藏
页码:417 / 427
页数:11
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