Measurement of Fumarylacetoacetate Activity in DBS (Dried Blood Spot) with LCMS-8040

The intermediate metabolites fumarylacetoacetate and succinylacetone (SuAC) are used as indicators when analyzing for fumarylacetoacetate hydrolase activity, which is an enzyme involved in amino acid metabolism. Here we describe an example analysis for succinylacetone performed using an LCMS-8040 high-performance liquid chromatograph triple quadrupole mass spectrometer and employing an analytical protocol used by the Mass Spectrometry, Clinical Chemistry and Pharmacology Lab. of Meyer Children's Hospital (Florence, Italy).