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Phenylketonuria is discovered
Norwegian doctor Asbjørn Følling examined two mentally retarded siblings. As part of the exam, he gave both a ferric acid urine test and discovered an unexpected reaction. The urine contained phenylpyruvic acid, allowing him to determine that the siblings had a condition previously unknown to doctors, which he called by its scientific name, Oligophrenia Phenylpyruvica (Woolf & Adams, 2020). -
Phenylketonuria recieves its current name
Lionel Penrose and Juda Hirsh Quastel renamed the condition phenylketonuria, changing it to be more in line with other disease names such as cystinuria and pentosuria (Penrose, 1998). -
Institution of a low protein diet
A low protein diet for people with PKU was developed. However, at this time there was no early detection for PKU, meaning that by the time the low protein diet was put in place, there was already mental damage done (Phenylketonuria (PKU) and newborn screening, 2017). -
Guthrie develops newborn screening test
Dr. Robert Guthrie developed a blood test using dried blood spots that tested for the presence of PKU, making it easier to determine whether the condition was present before brain damage occurred (Guthrie, n.d.). -
Newborn screening
By 1967, 37 states required newborn screening for PKU and other conditions via dried blood spots (1961: First Screen for metabolic defect in newborns, 2013). -
PKU is found to effect pregnancy
A link is made between pregnant women with PKU having high blood phenylalanine levels and their children subsequently suffering from intellectual disability, heart problems, low birth weight, and more (Phenylketonuria (PKU) and newborn screening, 2017) -
Kuvan is approved by the FDA
A new supplement, Kuvan (sapropterin dihydrochloride), developed by pharmaceutical company BioMarin, is approved for use by the Food and Drug Administration. The supplement helps to control blood phe levels, allowing many patients to increase their protein intake or providing cognitive benefits (BioMarin, 2007). -
Palynziq approved by FDA
An injection created by BioMarin to lower blood phe levels is approved by the FDA (BioMarin, 2018). Palynziq has allowed some patients to go from a single digit protein intake daily to a three-digit protein intake (E. Desjardins, personal communication, February 19, 2023). -
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Gene therapy trials for PKU
The first gene therapy trial for PKU, pheNIX, began in 2019 (U.S. National Library of Medicine, n.d.-b). Additional trials have since launched, and an effective gene therapy treatment is being sought (U.S. National Library of Medicine, n.d.-a). -
The PKU diet continues to evolve
The addition of specialty low protein foods and supplemental formulas have made it easier for PKU patients to obtain necessary nutrients without consuming more protein than their bodies can handle (University of Washington, 2008).