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.

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Recently the TIDE team in collaboration with clinicians from across Canada received a catalyst grant from CIHR to investigate the effects of a new drug to improve outcomes in PKU (Phenylketonuria). PKU is the first treatable ID which has made strides since its discovery as a treatable ID in the 1960s to the development of a sophisticated diet low in phenylalanine and worldwide implementation of newborn screening to prevent ID in affected children. So far diet has been the only therapeutic option, which despite its overall effectiveness to prevent severe ID, has its downsides including arduous restriction of dietary protein which is widely replaced by synthetic aminoacid mixtures and expensive low protein food. Sapropterin-hydrochloride (Kuvan®) is the first pharmacologic treatment for PKU, which has the potential to reduce blood phenylalanine levels and allow a more liberal diet for patients. Our research is about describing the various response patterns of this drug in children with PKU. Findings will help to define clinically meaningful outcomes and identify those patients who will realize the most advantage of this costly new drug.

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tidemedsdiet
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.
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