Application of proteomics technology in diagnosis and pathogenesis of genetic metabolic diseases / 中华检验医学杂志

ABSTRACT

Inborn Errors of Metabolism (IEM) are diseases caused by genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps composed of peptides and/or proteins necessary to maintain normal metabolism of the body, namely, mutations in the genes encoding such peptides (proteins). Through metabolomic analysis of sugars, amino acids, organic acids, fatty acids, carnitine and other substances in blood or urine, as well as cellular enzymology, molecular biology and proteomics analysis. We can identify and quantify abnormal biomarks, determine biomarkers as diagnostic and therapeutic monitoring tools. At the same time, through proteomic research. We can provide scientific basis for the pathogenesis of hereditary metabolic diseases.