Measurement of Methylmalonic Acid, 3-OH Propionic Acid and Succinic Acid in DBS (Dried Blood Spot) with LCMS-8040

Introduction

Compounds such as methylmalonic acid (MMA), propionylcarnitine, 3-OH propionic acid (3-OH PA), and succinic acid (SA) can be used as indicators when analyzing for methylmalonyl-CoA mutase and propionyl-CoA carboxylase activity, which are enzymes involved in amino acid, cholesterol, and fatty acid metabolism. Here we describe an example analysis 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).

May 23, 2014 GMT