Pyridoxine supplementation confers protection against SGPL1R222Q variant sphingosine phosphate lyase insufficiency syndrome
Ranjha Khan, María L. Allende, Ehtesham Khalid, Joanna Y Lee, E.W. Stone, Max Rodnick-Smith, Audrey K. Izuhara, Vadym Buncha, Georgina Gyarmati, János Peti‐Peterdi, Ranya Al-Khaledy, Jeffrey B. Hodgin, Gizachew Tassew, Babak Oskouian, Rachel Zhang, , Julie Deane Saba
The paper shows pyridoxine supplementation improves SPLIS symptoms in a patient and mouse model by reducing S1P levels and enhancing SPL activity.
bioRxiv · May 14, 2026 · PreprintMolecular Biology