Phenylketonuria (PKU) is a rare, inherited metabolic disease that is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). This enzyme helps to break down the amino acid phenylalanine (Phe), a building block of protein found in most foods and some artificial sweeteners. People with PKU are unable to process Phe, leading to a toxic buildup in the brain that can cause irreversible neurological damage including IQ loss, memory loss, seizures, learning disabilities and emotional issues. To prevent these effects, those with PKU need to follow a strict lifelong diet low in Phe.  

Because it is such a rare disease, the financial support necessary to advance research falls on the families and individuals who care passionately about pursuing a cure; it was this same personal dedication that formed National PKU Alliance. With your help, our fundraising efforts will support this critical effort. 

National PKU Alliance (NPKUA) is the only national organization dedicated solely to supporting individuals and families affected by phenylketonuria (PKU). NPKUA’s mission is to improve the lives of individuals with PKU, pursue a cure by expanding research and provide education and support to individuals living with PKU and their caregivers.  

Since its founding in 2008, NPKUA has been a driving force in advocating for PKU patients, advancing research for innovative treatments and providing support through educational resources, patient programs and community-building initiatives.

How Does My Donation or Fundraising Help?

Funds raised during the Move Your Pheet fundraising challenge will go towards supporting the mission of National PKU Alliance, including: 

• Community Support Programs such as our mentorship program, community calls and support kits.  
• Educational Resources for navigating life with PKU, from birth through adulthood.  
• PKU Patient Registry to support researchers and health care providers in gaining a deeper understanding of PKU.
• Research of exciting new treatments, such as gene therapy, and medical devices, like a home Phe monitor. 

Our PKU community is the center of everything we do. Your generosity allows us to keep pushing forward on your behalf. Thank you for your support!