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.


The Lysine –Restricted Diet as Novel Add-On Therapy for Pyridoxine Dependent Epilepsy: PDE Consortium’s Consensus Recommendations

Among the most recent TIDE publications are the consensus recommendations for lysine –restricted diet as new add-on therapy for PDE. This paper is the result of several international PDE Consortium Workshops (2010-2013), a platform uniting expert physicians and scientists in the field of this metabolic epilepsy. Published in JIMD Reports, these Recommendations aim to standardize the implementation and monitoring of patients using the new diet in addition to vitamin B6 treatment, with the goal of improving neurodevelopmental outcomes: about 75% of patients with PDE due to antiquitin (ATQ) deficiency suffer from developmental delay and/or intellectual disability despite receiving treatment for seizures. The 2012, a landmark paper by Dr. Clara van Karnebeek in collaboration with Canadian, German (Dr. Hans Hartmann and colleagues) and USA (Dr. Johan Van Hove and colleagues) centers, showed that adjunctive treatment with a lysine-restricted diet is safe, and prevents brain damage via lowering toxic lysine intermediates in the brain. Potential benefits included seizure control and improved psychomotor development in this patient population.

Via the international PDE Consortium, TIDE has taken the lead in treating this metabolic epilepsy and continues to play a fundamental role in evidence generation. Soon the TIDE team will launch of an international REDCAp database to capture natural history and treatment outcome data to allow studies on new treatments (including arginine supplementation), ultimately to improve outcomes of affected individuals worldwide.