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

Iatreia

Burgos Herrera, Luis Carlos¹  Mesa Herrera, Natalia Regina¹  Carmona Carmona, Cristian Andrés¹ 

[1] Universidad de Antioquia;

关键词: Inborn Errors of Metabolis;    Nitroprusside;    Errores Innatos del Metabolism;    Nitroprusiato;    Dinitrofenilhidrazin;    Erros Inatos do Metabolismo;    Hoeshm Nitroprusiato;    Nitrosonaftol;    Resorcinol;    Nitrosonaftol;    Resorcinol;   

DOI  :  

来源: DOAJ

【 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.

【 授权许可】

Unknown