METHYLCITRATE ANALYSIS IN DRIED BLOOD SPOTS

摘要

There is provided a method of measuring methylcitrate (MCA) in a sample by derivatizing the MCA, for example with 4-[2-(N,N-dimethylamino)ethylaminosulfonyl]-7-(2-aminoethylamino)-2,1,3-benzoxadiazole (DAABD-AE); measuring a level of the derivatized MCA; and determining the level of MCA from the measured level. The sample may be a dried blood spot (DBS), and the extraction and derivatization may be carried out simultaneously. No separate extraction or purification step is required, thereby reducing sample handling. Measuring may be carried out by mass spectrometry. The method may be used to screen for subjects having or at increased risk of a propionylcarnitine (C3) related disorder. The method may be used as a first tier screen, or as a second tier test for a sample that previously triggered a positive result in a primary screen. The method may be applied to newborn screening. Related kits and uses are also provided.

主权项

1. A method of measuring a level of 2-methylcitric acid (MCA) in a sample, comprising:
derivatizing the MCA with 4-[2-(N,N-dimethylamino)ethylaminosulfonyl]-7-(2-aminoethylamino)-2,1,3-benzoxadiazole (DAABD-AE); measuring a level of the derivatized MCA; and determining the level of MCA from the measured level of derivatized MCA.