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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TIDE-BC is demonstrating an impact for families. Five-year old Nathan’s life has improved immensely, as has his family’s. At the age of three, suffering from developmental delay, autism and seizures but undiagnosed despite having seen 15 specialists, TIDE-BC first tier testing revealed creatine in Nathan’s urine. He was referred to TIDE-BC at BCCH where he was diagnosed with Creatine Transporter Deficiency, one of the rare yet treatable disorders causing intellectual disability for which the TIDE program promotes active screening.


Consulting neurologist Dr. Chau points to TIDE-BC as the program that enabled the diagnosis. ‘Now that we have the TIDE study with a comprehensive testing protocol we are enhancing our ability to diagnose intellectual disabilities which are causally treatable’. In response to being informed of the diagnosis, Vanessa, an appreciative mom says, ‘Dr. Clara van Karnebeek explained everything so well to us and gave us wonderful information. She made us feel at ease. Further testing confirmed the presence of a defect in Nathan’s X chromosome preventing the manufacture of normally functioning creatine transporter, important for providing energy to the brain.

Dr. van Karnebeek initiated an innovative therapy for Nathan; while not curable, this intellectual disability has become treatable as demonstrated by Nathan’s story with creatine, glycine and arginine supplements three times a day to enhance the brain creatine or energy content. The treatment has resulted in his improvements, as is evident on imaging as well as in his cognitive and behavioural functioning. As Nathan’s mom reports, ‘Nathan used to smash his head against the wall and could not communicate. The other day he stood at the window singing about the sun. He couldn’t talk before. This is amazing to us.’

READ THE FULL STORY HERE.
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