Home » Key Figures Of PKU History

Dr. Robert Guthrie – “Father” Of Mass Newborn Screening

When we discuss about people who have left the deepest mark in phenylketonuria disorder history, two names notably stand out – Dr. Ivar Asbjørn Følling, who discovered PKU, and Dr. Robert Guthrie, the man who made the first practical PKU screening test. While Dr. Guthrie will forever be remembered as a “father” of Guthrie test, he also developed or collaborated on tests that helped in detection of 30 different diseases.

American microbiologist Dr. Robert Guthrie was born in 1916. in Marionville, Missouri. Due to economic depression, his father couldn’t mantain a steady job, so the Guthrie family was forced to often move around the country in his early childhood. Finally, they settled in Minneapolis, where young Robert eventually finished his formal education. He graduated from high school near the bottom of his class of 400 students, but was always considered as a very bright student who loved some classes more than others.

With no money and no college scholarship in his pocket, Robert Guthrie realized something have to change and returned to his high school as a postgraduate student, successfully passing trigonometry, solid geometry, algebra, shorthand and typing. In addition, he also attended chemistry night school. Soon after, his effort began to pay off after he enrolled at the University of Minnesota.

In 1939. Robert Guthrie was admitted to the University of Minnesota Medical School, primarily to satisfy his mother, and as he later admitted, a decision he’ll soon regret. A year later, with the help of his microbiology professor, Robert got a job as a graduate assistant in the Department of Bacterology and Biochemistry at the University of Maine. As it turned out, he couldn’t made a better decision, declaring that “he had found his niche”.

Two years later Robert Guthrie married his longtime girlfriend Margaret Flagstad. The couple stayed together for 53 years and had six children. Their second oldest child – John – was born mentally disabled, but the cause of his condition was never diagnosed. This unfortunate situation prompted Robert Guthrie to devote his career to the research and prevention of mental retardation.

Six Degrees In Six Years

By 1946., when he got his Ph.D., Robert Guthrie earned incredible six degrees in six years. Although he earned his M.D., too, he never intended to practice medicine.

When Dr. Guthrie met Dr. Robert Warner in 1957., nobody could imagine that this meeting could start a large chapter in medical history. Dr. Warner was director of Children’s Rehabilitation Center in Buffalo, which specialized in research and evaluation of patients with mental retardation. His mission was to find a simpler and more effective method to measure the level of phenylalanine in PKU patients’ blood.

The rest was history. Dr. Guthrie perfected the test three days later and completely changed the medical, as well as PKU disorder history. This test only needed few drops of patients’ blood, which is then placed on the filter paper disc. After that, the paper disc is placed on the surface of the agar gel culture containing substances which inhibits growth of the bacteria. However, the presence of excess phenylalanine cancels the inhibition and allows bacteria to grow, which was clear indication of PKU disorder in patients’ body. Dr. Guthrie called this test “bacterial inhibition assay”.

Back To The Drawing Board

Four years later, in 1961., Dr. Guthrie’s little niece was diagnosed with PKU disorder and this revelation fueled him to turn his attention to PKU once again. As the original test utilized filter paper soaked with serum which needed to be processed, he started the search for simpler and more practical mass newborn screening solution. The original idea was to bring this test to every hospital in country and soon he found the way to do just that. Dr. Guthrie learned that he can collect the small amount of blood with filter paper from infant’s heel, dry the blood, puch out a small disc from the blood spot, and then normally resume further testing. Guthrie test was born.

In subsequent years PKU screening became mandatory in 37 US states. By the end of the 1960’s, newborn screening – which was used to detect PKU, as well as many other various diseases – became a medical standard in hospitals across the USA. In recent years the Mass spectrometry superseded Guthrie test. However, Dr. Robert Guthrie – who also dicovered tests for galatosemia, maple syrup urine disease and homocystinuria sickle cell anemia – will forever be remembered as a man who brought mass infant screening to every hospital in the world.

Want to learn more?


“The PKU Paradox: A Short History of a Genetic Disease” by Diane B. Paul and Jeffrey P. Brosco.

“Robert Guthrie–The Pku Story: Crusade Against Mental Retardation” by Jean Holt Koch.

“Low Protein Cookery for Phenylketonuria” by Virginia E. Schuett.

“Low Protein Food List for PKU” by Virginia E. Schuett.

“Low Protein Bread Machine Baking for PKU” by Virginia E. Schuett.

Share/Bookmark this!

Leave a reply

Add your comment below, or trackback from your own site. You can also subscribe to these comments via RSS.

Be nice. Keep it clean. Stay on topic. No spam.

You can use these tags:
<a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>

This is a Gravatar-enabled weblog. To get your own globally recognized avatar, please register at Gravatar.


Recent Posts