Treatment Options Approved in Canada

This page provides a summary of medications and therapies currently approved by Health Canada for individuals living with Phenylketonuria (PKU), Homocystinuria (HCU), Maple Syrup Urine Disease (MSUD), and Urea Cycle Disorders (UCDs). It is based on Health Canada's Drug Product Database and other verified sources as of July 2025.

Phenylketonuria (PKU)

• Kuvan® (sapropterin dihydrochloride) – Approved by Health Canada to help lower blood phenylalanine (Phe) levels in patients responsive to BH4 supplementation. Available in tablets and powder for oral solution.
• Palynziq® (pegvaliase-pqpz) –  Approved by Health Canada to reduce blood phenylalanine (Phe) levels in adults with PKU who have uncontrolled Phe despite prior treatment. Administered as a daily subcutaneous injection. 
• Sepiapterin (Sephience™) – Approved in the EU in 2025. As of now,  under review by Health Canada.

Homocystinuria (HCU)

• Cystadane® (betaine anhydrous) – Approved in Canada for the treatment of homocystinuria, including CBS, MTHFR, and cobalamin metabolism disorders. Helps lower elevated homocysteine levels.
• Other treatments – Pyridoxine (vitamin B6), folate, and B12 are commonly used as supportive therapies depending on the specific subtype. These are available in Canada but are not specific HCU drugs.
• CDX-6512 (enzyme therapy) – Experimental therapy in preclinical development. Not available in Canada.

Maple Syrup Urine Disease (MSUD)

• There are currently no drugs approved in Canada specifically for the treatment of MSUD.
• Management is based on:
  • Strict dietary control (low BCAA)
  • Medical formulas (BCAA-free)
  • Emergency protocols for metabolic crises
• Experimental therapies such as sodium phenylbutyrate and gene therapy are under investigation but not approved in Canada.

Urea Cycle Disorders (UCDs)

• Buphenyl® (sodium phenylbutyrate) – Approved for chronic management of UCDs. Helps eliminate nitrogen waste in patients unable to metabolize ammonia effectively.
• Ravicti® (glycerol phenylbutyrate) – Approved by Health Canada in 2020 for patients 2 years and older. A more palatable alternative to Buphenyl with fewer gastrointestinal side effects.
• Olpruva™ (sodium phenylbutyrate) – Not yet approved in Canada. Approved in the U.S. in 2023.

Access Pathways

If a treatment is not yet approved in Canada, individuals may be eligible to request access through Health Canada’s Special Access Program (SAP), which allows for the use of non-marketed drugs under certain conditions when prescribed by a physician.

Sources

• Health Canada Drug Product Database
• Health Canada Special Access Program (SAP)
• PTC Therapeutics (Sepiapterin)
• BioMarin and Drug Manufacturers

 Information current as of 2025 07 11 . If  you seen an error, omission or update is required please reach out to website@canpku.org and let us kow!