Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth SyndromeRoberto Angelini *1, Silvia Russo *2, Angela Corcelli 2, Simona Lobasso 2
1Medical School, Swansea University, 2Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari Aldo Moro
This protocol shows how to obtain a mass spectrometric "fingerprint" of leukocyte cardiolipin for the diagnosis of Barth syndrome. The assessment of elevated monolysocardiolipin to cardiolipin ratio discriminates patients with Barth syndrome from control heart failure patients with 100% sensitivity and specificity.
