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 Phenylketonuria (PKU) – the poster child for newborn screening!

PKU still requires a lifelong special diet. PKU still requires monitoring. PKU is still a burden to individuals and to families, but the accomplishments of those living with PKU is a celebration of overcoming, a celebration of the many minds who have contributed to research, and a celebration of the human spirit.

 The Political History of PKU: Reflections on 50 Years of Newborn Screening

Phenylketonuria, or PKU as it is more familiarly known, is a rare disorder, affecting only ∼1 in 15 000 people. In the United States, for example, ∼275 infants will be born with the disease each year.1 Thus in a lifetime of practice most pediatricians will not encounter a single case. Yet probably every pediatrician in the industrialized world has learned about PKU during medical school, many parents vividly remember the heel-stick test for their newborn, and scientists interested in genetics and metabolism say that they hope to “find another PKU.” Why has such a rare condition garnered so much attention?

Articles of Interest

60 Years, Hundreds of Newborns Helped: A History of PKU Screening

Collecting blood spots may not have changed dramatically in 60 years, but technological advances have allowed screening to expand well beyond PKU. Laboratories no longer use bacteria that consume phenylalanine. Now, a technique called “tandem mass spectrometry” gives more accurate results for PKU screening while simultaneously conducting tests for dozens of other conditions.

How do health care providers diagnose phenylketonuria (PKU)?

All 50 U.S. states and territories require that newborns get screened for PKU. In addition to the United States, many other countries routinely screen infants for PKU. Before screening for PKU was possible, most infants with the disorder developed severe intellectual and developmental disabilities (IDDs). In the 1960s, researchers supported by the federal Children’s Bureau determined that a test for PKU given to newborns was safe and effective. Later, NICHD led research on the safety and effectiveness of a restricted diet to treat PKU. Since then, PKU has been almost completely eliminated as a cause of IDDs.

National PKU Alliance

The National PKU Alliance works to improve the lives of families and individuals associated with PKU through research, support, education and advocacy, while ultimately seeking a cure.

National Society for Phenylketonuria

The NSPKU actively promotes the care and treatment for those with PKU and works closely with medical professionals in the UK.

Newborn Screening for Phenylketonuria: What One Needs to Know?

There are several screening methods, ranging from basic to advanced, used to detect PKU after collecting a heel prick sample between 48-72 hours after birth. Blood droplets are placed on specialized filter paper and stored as dried blood spots (DBS) for further laboratory testing.

PKU News

National PKU News is dedicated to providing up-to-date, accurate news and information to families and professionals dealing with phenylketonuria (PKU).

PKU Test Results — What’s normal?

The PKU test is a screening test for PHENYLKETONURIA (PKU). The normal values of the test depend entirely on the laboratory where the test is run, and the methods and units used. In some cases the number can be normal up to 20; in others, anything above 1.2 is abnormal. You will not know about your son’s values without checking on the normal ranges of the lab.

Raising Baby Caroline: Life with PKU

Amy knew of newborn screening prior to giving birth and remembers the nurse telling her it had been done. She said she thinks about that little heel-prick often. “Newborn screening saved my baby’s life. I think daily about what our life would be like if we never had that test. I am so grateful.”

The Tests That Babies Need

Fifty years ago, a revolution began in neonatal care that has preserved the physical and mental health, and often the lives, of thousands of babies: screening of newborns for inherited and congenital disorders. On Oct. 15, 1963, the first law requiring that all newborns be screened for phenylketonuria, or PKU, took effect in Massachusetts.

Resources

PKUHope Foundation

Improving the quality of life for those with PKU by fostering community and influencing and supporting research for PKU treatment therapies.