What is PKU?
Phenylketonuria (PKU) is a rare genetic disorder that causes an amino acid called phenylalanine to build up in the brain. While the U.S. screens newborns for phenylketonuria, most countries do not. If left untreated, phenylketonuria can lead to brain damage, intellectual disabilities, behavioral symptoms, seizures, and emotional disorders. The treatment includes a strict diet of medical low protein foods, metabolic formula and frequent blood draws to monitor phenylalanine levels.
Phenylalanine & the Brain
PKU largely affects the brain. Individuals with PKU cannot metabolize phenylalanine into tyrosine, a precursor of dopamine and other neurotransmitters. Without treatment, phenylalanine builds up in the brain and cannot function correctly. This causes disruptions in neurotransmitters which are vitally important for learning, memory, mood, and motivation.
PKU Is A Rare Disease
In the United States, there are roughly 16,500 people that have PKU. PKU affects between 1 in 10,000 and 1 in 20,000 depending on the country of origin.
PKU Diagnosis
PKU requires a medical diagnosis and, in the United States, is normally detected at birth as part of standard newborn screening process. PKU is a chronic disease and requires life long management.
PKU Treatment
There is no cure for PKU at this time. Treatment strategies include medical foods and formula, consistent lab testing, and strict low protein diet management with the support of a professional dietician and geneticist.
Our Events
Our fundraising and community development based events are tons of fun and provide a way for those in the PKU community to find support among each other. Please join us at our next event if you can!
Our Store
-
TN PKU - Night at the Ballpark - 6.01.24 - Knoxville Smokies vs Chattanooga Lookouts
![]()
- Regular price
- $30.00
- Sale price
- $30.00
- Regular price
-
- Unit price
- per
Sold out -
2021 Nashville Walk T-Shirt
![]()
- Regular price
- from $15.00
- Sale price
- from $15.00
- Regular price
-
- Unit price
- per
Sold out
