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.
February 14, 2013(More Info)