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.


This November, Dr. Sylvia Stocker and TIDE investigators Drs. Clara van Karnebeek, Theresa Newlove and Nataliya Yuskiv, together with an international team of investigators, have had a landmark paper on GAMT deficiency accepted for publication in Molecular Genetics and Metabolism. The article presents follow-up data on 48 GAMT-deficient patients. This is the largest cohort described in the 19 years since the discovery of this ultra-rare disease by Dr. Stockler and a team of pediatric neurologists, biochemists and physicists in Germany.

GAMT deficiency is an inborn error of creatine synthesis, which results in intellectual and motor disability, autism, and epilepsy. This paper details potentials and limitations of the currently available treatment modalities (creatine and ornithine supplements and dietary arginine restriction) and clinical outcomes monitored from several months up to 16 years. It discusses the influence of the age at treatment onset, making the case that it is much better to diagnose and initiate a treatment very early, e.g. within the first weeks/months of life.

The authors also provide expert recommendations on the diagnosis, treatment and monitoring of individuals with GAMT deficiency. They also suggest establishing a GAMT registry and a prospective observational study to better understand the effects of the various treatment modalities on long term patient outcomes.As such, this work is an important contribution to the literature and a useful resource for clinicians treating patients with GAMT deficiency.

Funded through TIDE BC, this paper is the fruition of a multicenter, international collaboration on the experience of diagnosing and treating patients with GAMT deficiency.