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Phenylketonuria (PKU) Health Center

Get Email Updates on Phenylketonuria (PKU):

Phenylketonuria – commonly called PKU – is an inherited metabolic disorder in which the body is unable to break down the component of protein called phenylalanine. In people with the disorder, high levels of phenylalanine can build up in the body, particularly in the brain, where it can have a toxic effect. This phenylalanine build-up can result in impaired brain function and developmental problems, particularly in young children going through critical developmental stages. PKU can be diagnosed at birth, and treatment traditionally has consisted of careful control of phenylalanine intake through a stringent low-protein diet supplemented by special foods. However, today new treatment options have become available for PKU.

The National PKU Alliance

The 2012 National PKU Alliance Conference was the largest known gathering of the PKU community. With the goal to improve the lives of individuals with PKU and pursue a cure, this conference drew noted experts from around the nation and the world.

Click here to watch the interviews

Welcome to Patient Power's PKU Education Center

Patient Power PKU features more than 90 in-depth programs featuring PKU nutritionists, doctors, and patients on a wide range of topics important to PKU patients, parents, and caregivers in our Education Center; video stories from Powerful PKU Patients; and local advocacy resources.