Patients with cystathionine β-synthase deficiency (CBSD) exhibit high circulating levels of homocysteine and enhanced lipid peroxidation. We have characterized the plasma lipidome in CBSD patients and related lipid abnormalities with reactions underlying enhanced homocysteine levels.
Di Minno A, Anesi A, Chiesa M, Cirillo F, Colombo GI, Orsini RC, Capasso F, Morisco F, Fiorelli S, Eligini S, Cavalca V, Tremoli E, Porro B, Di Minno MND. Plasma phospholipid dysregulation in patients with cystathionine-β synthase deficiency. Nutr Metab Cardiovasc Dis 2020 Jul 23;S0939-4753(20)30294-5. doi: 10.1016/j.numecd.2020.07.019