Newborn screening began in the 1960’s with the development of the PKU test. Often, newborn screening is still referred to as the “PKU Test”, but PKU is just one of the many disorders tested for at birth.
People affected by PKU are not able to break down an amino acid called phenylalanine. If untreated, PKU results in a buildup of phenylalanine in the body. This can cause developmental delays, seizures, brain damage, and even death. Early detection and proper treatment can reduce the severity of symptoms.
PKU is estimated to affect between 1 in every 10,000 to 23,000 babies born in the United States.
PKU is an Amino Acid Disorder.
Also Known As
- Classic Phenylketonuria
- Phenylalanine Hydroxylase Deficiency
- Hyperphenylalaninemia - Classic Type
- PAH Deficiency
- Baby’s First Test
- Intermountain PKU and Allied Disorders (IPAD)
- National PKU Alliance
- Star-G Parents’ Fact Sheet