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.


When Nolin was just three years old he became the first person in the world to be diagnosed with NANS deficiency, a genetic disorder that causes severe neonatal epilepsy, bone abnormalities, and developmental arrest. The problem lies in the body’s inability to make enough sialic acid, a sugar which provides building blocks for many processes in the body.

The diagnosis, made by the clinician-researchers at TIDE-BC, had a profound effect not only on Nolin’s access to care but also in providing support for his parents, Darlene and Frank.

NANS deficiency is a truly devastating condition. Nolin is missing a critical enzyme that affects the development of many of the body’s tissues and cells. As a result, he cannot hold up his head, sit, stand, eat orally, talk or see very well. He needs 24 hours of care, a feeding tube, is prone to airway infections and blood complications, in short, he is completely dependent on others.

Nolin is described along with 8 other individuals with NANS deficiency, a novel inborn error of metabolism, in a recent Nature Genetics article.