Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


Mason was just 2 months old when he was put on anti-seizure medication. It quickly became evident that he was unresponsive to the medication and only responded to the vitamin B-6 (pyridoxine) and folinic acid therapy. However, once diagnosed with pyridoxine dependent epilepsy (PDE), a metabolic form of epilepsy, Mason began treatment which changed the course of both his life and his mother’s. Without realizing it, Mason has helped lead the way for other children suffering from the same inborn error of metabolism. His treatment -a lysine restricted diet- is a medical therapy pioneered though TIDE-BC. Mason was among the first patients with PDE worldwide to be successfully treated by by this medical diet in conjunction with vitamin B6, a therapy which has been developed and studied by the TIDE-BC team in collaboration with German neurologists.