Homocysteine is a nonessential, sulfur-containing amino acid involved in one-carbon (folate) metabolism. A number of inherited and acquired conditions cause increased accumulation of this metabolite in blood (homocysteinemia) and other biofluids. Homocysteinemia is a risk factor for cardiovascular disease, including recurrent thrombosis. Accurate measurement of total plasma homocysteine is an important element in the diagnostic evaluation of these disorders. While a number of different methods have been developed for this purpose, the focus of this unit will be on a specific technique utilizing liquid chromatography-tandem mass spectrometry, which provides several advantages in terms of speed, sensitivity, and specificity.
Keywords: HPLC-MS/MS; cardiovascular disease; cobalamin; cystathionine β-synthase; folate; homocysteine; homocysteinemia/homocystinuria; homocystine; methionine synthase.
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