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 diet used to control phyenlalanine (Phe) levels in patients with Phenylketonuria (PKU) is not only quite restrictive, it is also a life-long commitment. TIDE-BC is pleased to announce that it has just received funding to develop a Canadian Consortium to test the effectiveness of a drug that would enable more leeway in dietary choices for PKU patients. Sapropterin dihydrochloride (also known as Sapropterin or Kuvan) has been used as an add-on treatment for PKU since 2008 and studies have already shown a reduction in Phe levels for many patients. Led by TIDE BC’s Dr Sylvia Stockler (PI), along with Dr JP Collet (methodology) and Dr B Carleton (pharmacology & health economy), the Consortium will be establishing guidelines to formally assess the effectiveness of Sapropterin in Canadian patients with PKU. This includes the development of standardized procedures for testing the drug’s abilities to lower Phe levels in the blood, to allow more protein in the diet and to support any improvements in intellectual and behavioural functions in PKU patients.
An added benefit of this initiative is that the results may convince the Canadian Expert Drug Advisory Committee (CEDAC) to add Sapropterin to the list of covered medications. This would be good news to families in Canada that presently have to cover the cost of this non-funded medicine.