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?
Published papers, articles and news outlets on HCU.
History of HCU in NBS
CDC shares Elliot's Story
2018 SSIEM HCU NBS Guideline Recommendations