What is PKU?
A rare autosomal recessive genetic metabolic disorder that if untreated can cause brain damage. Limited PAH enzyme activity reduces the amount of phenylalanine converted to tyrosine, and allows toxic excess "phe" to build up in the brain.
How's it Treated?
People with PKU follow a severely restricted diet to maintain low phe levels, consisting mostly of fruits/vegetables and medical formula. The PKU diet requires patients to avoid foods high in protein, including meat, eggs, bread, milk and cheese.
- Check out this video produced by a successful young man w/PKU, highlighting his life and explaining the importance of medical foods and formula
- One parent's perspective on what's involved with day-to-day management of the PKU diet.
- A documentary about a boy who has PKU but doesn't suffer from it.
- Part 1 and Part 2 of Dr. Richard Koch's description of PKU history and treatments.
Pursuing a Cure.
Thank you to the following organizations and individuals for their tireless dedication and commitment to PKU research and treatment development!
- BioMarin (PEG PAL Phase 3 Announcement, PEG PAL Phase 1 Clinical Trial)
- Dr. Ray Stevens
- Dr. Cary Harding
Other Resources.
- National PKU Alliance (NPKUA) - Individual memberships available!Check out the new My PKU Binder, a comprehensive manual on effectively managing PKU on a daily basis. These materials include the newest and best thinking on PKU and offer hundreds of tips, advice and what to expect from birth to adulthood both practically and emotionally.
- PKU Recipe Blog
- Cambrooke Foods
- Vitaflo
- Maddy's Low Pro Foods
- Taste Connections
- PhenylAde PKU Medical Food
- Cook for Love
