IDPH 125th


In April 1965, Illinois enacted a law requiring all newborn infants in the state to be tested for phenylketonuria (PKU). Responsibility for carrying out the mandatory testing was given to the Department of Public Health. By the following year, the Department had promulgated rules and regulations and had distributed them to all hospitals, physicians, public health agencies, and other interested groups and individuals in the state.

Phenylketonuria, or PKU, is an inherited metabolic disease that occurs in one of every 10,000 newborns. If not diagnosed and treated early, PKU can cause mental retardation.

To make sure infants at risk for PKU and other metabolic disorders are identified, the state has required that they be screened for six disorders: biotinidase deficiency, congenital adrenal hyperplasia, galactosemia, hypothyroidism, PKU and sickling diseases. In 2002, the Department expanded its screening efforts to include more than 20 additional disorders.

A day after birth, hospital staff prick a baby’s heel and collect a few drops of blood on special filter paper. The sample, which is used to check for all these disorders, is then sent to the Department’s Chicago laboratory for analysis. Results are returned to the hospital or to the baby’s physician.

Newborn screening varies from state to state, although testing for PKU and hypothyroidism occurs in every state. As of now, there are no federal guidelines for newborn screening. The American Academy of Pediatrics has recommended that there be uniform testing across the nation.

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Illinois Department of Public Health
535 West Jefferson Street
Springfield, Illinois 62761
Phone 217-782-4977
Fax 217-782-3987
TTY 800-547-0466
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