Homocystinuria (HCU) - Canadian Newborn Screening Advocacy

Did you know that only 5 provinces in Canada currently screen for Homocysinturia using the newborn screening bloodspots?

Although the test isn't perfect and provides about a 50% false negative result (meaning the levels were not yet high enough to indicate that the person has HCU, so they are falsely lead to believe they do not have the disorder) not screening at all provides 100% false negative impression!

CanPKU+, lead by our HCU committee will be looking to tackle this issue. We welcome addition people to the team. Please reach out to HCU@CanPKU.org and let Sam know you are interested in joining the cause. Please also let her know as much of the following as you are comfortable sharing.

- What province do you live in?

- Do you or someone you love have HCU? (We welcome all helpers - so it's ok if this answer is no)

- If yes, were they screened at Newborn Screening?

- If yes, was the result positive or negative at that time?

Will you help us?

Email: HCU@Canpku.org

Published papers, articles and news outlets on HCU.

CDC shares Elliot's Story

To view the full document please see "Timing is Everything" published by Network of Rare Blood Disorder Organizations (website:  https://www.nrbdo.ca/nbs.html )

2018 SSIEM HCU NBS Guideline Recommendations 

This discussion area is for those who have signed up to be part of the HCU Advocacy group and may not be present for others. We can use this area to share ideas, strategies and progress.


Last message


2023-11-29 1:45 PM CanPKU (Administrator)
Log in
Powered by Wild Apricot Membership Software