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.


Translating Research into Better Care
Drs. Clara van Karnebeek and Ramona Salvarinova presented on behalf of the TideX team the first report of a newly discovered inborn error of metabolism, carbonic anhydrase 5A (CA5A) deficiency at the September 2012 International Society for the Study of Inborn Errors of Metabolism (SSIEM) meeting. This enzyme is pivotal for normal cell function. The impact for patients is significant as the genetic condition is treatable. The list of treatable intellectual disabilities has now expanded to 82. Early recognition of the disease, which causes life-threatening symptoms at birth, allows intervention to prevent brain damage. This discovery is a breakthrough, as it allows us to better understand how the body produces energy and neutralizes toxins.

Clinicians around the world are sending DNA of patients with similar presentations to BC Children’s Hospital for diagnostic confirmation and collaborations. A registry will be started here and lab research will be pursued by the TideX team with experts around the world to improve knowledge on CA5A. TideX symbolizes the strong collaboration between clinicians at BC Children’s Hospital (Sylvia Stockler’s division & Graham Sinclair’s lab) and scientists at the Child and Family Research Institute (Wyeth Wasserman’s team). TideX is also demonstrating how new technologies such as whole exome sequencing can result in concrete opportunities to improve patient outcomes. The manuscript by authors Clara van Karnebeek, Ramona Salvarinova, Casper Shyr, Gabriella A. Horvath, Virginie Bernard, Theresa Newlove, Henri Ukpeh, Hilary Vallance, Patrice Eydoux, Anna Lehman, Marion Coulter-Mackie, Colin Ross, Graham Sinclair, Wyeth Wasserman and Sylvia Stockler, entitled “Expanding treatable urea cycle and multiple carboxylases defects with the first description of mitochondrial CA5A deficiency” is currently under review.