Homocystinuria (HCU) - Canadian Newborn Screening Advocacy
Help Us Ensure Every Baby in Canada is Screened for Homocystinuria
Did you know that only five provinces in Canada currently screen for Homocystinuria (HCU) using newborn bloodspots?
While the test can catch about 50% of affected babies, it also has a significant false negative rate—meaning many babies with HCU may appear healthy at birth and remain undiagnosed until symptoms appear later. In provinces that don’t screen at all, the false negative rate is 100%, leaving babies at risk for serious, preventable health complications.
At CanPKU+, we are working tirelessly to revise newborn screening protocols across Canada so that every baby born with HCU is identified early and given the best chance for a healthy, happy life. We collaborate with governments, newborn screening laboratories, healthcare providers, patients, families, and other stakeholders to educate, advocate, and enact change. We won’t stop until all babies in Canada are optimally screened for HCU at birth.
Our Goal: First-Tier Screening Across Canada
We are advocating for first-tier HCU testing nationwide. While there are additional tests that could reduce false negatives even further, our immediate priority is ensuring all provinces achieve at least the current 50% detection rate.
How Can You Help?
To support this cause, we are building a team led by our HCU Team and supported by our Advocacy Advisor, John Adams. We welcome anyone who wants to get involved.
If you’re interested, please reach out to HCU@CanPKU.org and let Sam or Melanie know. When you do, please share as much of the following as you are comfortable with:
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What province do you live in?
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Do you or someone you love have HCU? (Everyone can help, so it’s okay if the answer is no.)
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If yes, were they screened at newborn screening?
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If yes, was the result positive or negative at that time?
Together, we can make sure no baby with HCU is missed. Join us in creating a future where every child in Canada is screened at birth.
Articles, Journals, and Publications to provide a brief History of HCU in NBS
2025 - Canadian Drug Agency - Pan-Canadian Guidance for Newborn Screening Available Here
2025 - Toward a Future Pan Canadian Coordinated Approach Available here
2024 - CDC shares Elliot's Story - Newborn Screening Is a Lifesaver
2023 - Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization Available Here
2023 - My Baby Has a Positive Homocystinuria Newborn Screening Result - Family Resource after diagnosis Available Here
2022 - Timing is Everything Available Here (website: https://www.nrbdo.ca/nbs.html )
2021 - Early Development of Newborn Screening for HCU and Current Challenges Available Here
2020 - INESSS (Québec) Report – Neonatal Screening for Nine IEMs Available here
2019 - Newborn Screening: Current Status in Alberta, Canada - PDF Available Here
2018 - SSIEM HCU NBS Guideline Recommendations - Available here as PDF
2016 - Newborn Blood Spot Screening for Galactosemia, Tyrosinemia Type I, Homocystinuria, Sickle Cell Anemia, Sickle Cell/Beta-Thalassemia, Sickle Cell/Hemoglobin C Disease and Severe Combined Immunodeficiency: Costs and Cost Analysis - PDF Available here
2005 - Newborn screening in Canada – Are we out of step? Available Here
| Will you help us? |
Email: HCU@CanPKU.org |