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A team of 4th year Pharmacology Students at University of Toronto worked with CanPKU+ with insight from community members (those who live with our disorders, and those that support them) to create this resource. We are very grateful to Ronan Rodrigues, Nishkam Patel, Gabriel Poujol, Anjali Mohile along with Dr. Rebecca Laposa who connected us to these students.

Downloads - You can download the PDF document and/or ZIP images from here.

Below we have included each page individually. Under each page you may find additional reading. 

Important to note: There might be alarming outcomes with this condition but keep in mind your individual situation might be different, and you should speak to healthcare provider about what the goal your personalized care will entail.

Many of the symptoms can be avoided by early treatment interventions and continued daily maintenance of the disorder to maintain optimum health.

 

Note for Parents: A newborn screening result that is initially positive does not necessarily mean your baby has the condition. Labs use strict detection thresholds to capture as many potential cases as possible. Sometimes a second test will show that the first result was a false positive. When it comes to these rare disorders, catching a possible case early—even if it turns out to be false—is far safer than missing a true case.

For more information regarding Newborn Screening (NBS) and the call that follows please check out this resource found under Resources - Research - Newborn Screening)

Pathophysiology of IEM + reputable sources to find this out

You can search through the document section of CANPKU as well to find out about these set of conditions under CANPKU+, but a good reliable source on the pathophysiology of each of these conditions are the following links:

A summary of the pathophysiology of each condition is included below based on the information from the Stats pearl sources above; This material is just for your information on the condition. There might be alarming outcomes with this condition but keep in mind your individual situation might be different, and you should speak to healthcare provider about what the goal your personalized care will entail.

Eat Right, Stay Bright - Can be found at this link or you can download it from our documents library here.