Phenylkatonuria (PKU)


Phenylketonuria (PKU) is a condition in which the body cannot break down one of the amino acids found in proteins called phenylalanine. If left untreated, PKU can cause brain damage or even death. However, if the condition is detected early and dietary treatment is begun, individuals with PKU can lead healthy lives. This condition is also known as: hyperphenylalaninemia - classic type, phenylalanine hydroxylase deficiency, PAH deficiency.

To learn more about PKU, visit Screening, Technology, and Research in Genetics (STAR-G): Phenylketonuria and Baby's First Test: Classic Phenylketonuria. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Board Certified Metabolic Providers (PDF: 2 pages/204KB) for a listing of medical specialists and clinic contact information.