Understanding our rare disordersOne in 12 Canadians has a rare disorder. Approximately 3 million Canadians and their families face a debilitating disease that severely impacts their lives. CanPKU+ assists those living with PKU and other allied disorders such as HCU, MSUD, and UCDs. Our disorders are all treated (at least in part) by a low protein medical diet. We all consume a medical formula. Right now, only 60% of treatments for rare disorders make it into Canada and many are approved years later than in the USA and Europe. People with rare disorders in Canada are missing out on treatments that could save or significantly improve their lives. This needs to change. CanPKU+ advocates for individuals and families to get access to trials, new medication, and better access to healthcare. We offer support through education and by connecting families so we can build a stronger community. Alone we are rare, together we are family. Where to start: This page shows a brief overview of all the current rare disorders we support. Whether you are affected by one or simply want to explore them all - this is a great place to start. For those who are affected by these rares, your metabolic clinic will guide a personal plan and can help you understand subtype, severity, and next steps.
Note: We began as an organization supporting families living with PKU. We have evolved into CanPKU+, and the “plus” includes other allied disorders supported by similar nutrition and medical management.
PKU (Phenylketonuria)PKU is a rare genetic disorder that is screened for at birth through newborn screening. People with PKU cannot process phenylalanine, an amino acid found in protein. Without treatment, phenylalanine can build up to toxic levels and harm the brain, especially in early childhood. With early diagnosis, appropriate dietary management, medical formula, and access to treatments and care, many people with PKU can live healthy lives. HCU (Classical Homocystinuria)Classical homocystinuria (HCU) is a rare genetic disorder that is sometimes screened for at birth, but screening is not consistent everywhere. People with HCU have difficulty processing certain amino acids, which can increase risk for serious complications such as blood clots, vision concerns, bone and spine issues, and learning challenges. Diagnosis and ongoing clinic support can help reduce risk and support long-term health. MSUD (Maple Syrup Urine Disease)MSUD is a rare inherited disorder where the body cannot properly break down three branched-chain amino acids: leucine, isoleucine, and valine. Illness or higher protein intake can cause levels to rise quickly. When levels are very high, urgent medical support may be needed. Many people with MSUD do well with lifelong management and metabolic clinic follow-up. Some individuals consider liver transplant as part of care. UCDs (Urea Cycle Disorders)UCDs are a group of genetic disorders that affect how the body removes ammonia, a toxic byproduct created when protein is broken down. In UCDs, the body cannot convert ammonia into urea as efficiently as it should, so ammonia can build up and affect the brain. Illness, certain medications, surgery, very high protein intake, or other metabolic stressors can increase risk for symptoms. Treatment can include a low-protein diet, supplements, ammonia-controlling medication, and sometimes liver transplant. What connects all of these disorders?
All of these disorders are rare, genetic, and lifelong. All require specialized metabolic care. All involve medical nutrition therapy, including a low-protein approach and metabolic formula. All require monitoring, education, and strong family support.
That is why we support them together.
We began with PKU. We evolved into CanPKU+. Different diagnoses. Shared challenges. One community.
Ready for practical support?
After you review your disorder overview, explore food, daily life, and family supports.
Nourish Flourish Life StagesSources and references
This page is for education and support. It is not medical advice. Always confirm medical decisions with your metabolic clinic.
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