Phenylketonuria

Phenylketonuria (PKU) is a rare genetic disorder in which the body is unable to process the amino acid phenylalanine, leading to a build-up of potentially toxic levels in the blood and urine. Without treatment, this can cause intellectual disability, neurological problems, and physical problems like lighter or patchy skin color. Treatment consists of a strict, low-phenylalanine diet, and the addition of dietary supplements and other special foods. Early screening and treatment is crucial, as after the age of four, mental disabilities tend to be permanent. PKU is a worldwide public health concern, and is the most commonly screened for inherited metabolic condition in newborn infants.