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Dr. Ivar Asbjørn Følling – The Man Who Discovered PKU Disorder

Norwegian physician and biochemist Dr. Ivar Asbjørn Følling (1888. – 1973.) will forever be remembered as a man who discovered Phenylketonuria (PKU) disorder and as a “father” of the first PKU test. He is also unofficially considered as the most important medical scientist not to receive the Nobel Prize for Physiology or Medicine.

Følling was born in Norwegian town Stenkjer as the youngest in a family of five children. As he later admitted, he spent most of his time working on a farm owned by his parents. However, when winter approached, young Følling turned his attention towards academic goals and attended a nearby school, which consisted of only one room and was open every other day. While the majority of students returned home after graduation, Følling had other plans. With a little help from his parents and his sister, he moved to Trondheim, where eventually he earned a high school diploma.

In 1916. Asbjørn Følling graduated chemistry at the Norwegian Institute of Technology in Trondheim, while couple years later, in 1922., he earned his medical degree at the Kristiania Medical University. Finally, after few years of postgraduate studies in Norway, Denmark, England, Austria and U.S., Følling earned his medical doctorate in 1929.

A year later Dr. Følling married a Red Cross nurse, Gur Opsahl, with whom he had two children – girl and a boy – Ragna (born 1931.) and  Ivar Asbjørn (born 1938.). Until his retirement in 1958., Dr. Asbjørn Følling worked as a professor of Biochemistry and Physician In Chief at the Central Laboratory at the Riskshospitalet, which is the Norwegian national research hospital.

PKU disorder discovery

The sequence of events that will begin to unfold in 1934., after a revolutionary discovery made by Dr. Asbjørn Følling,  will ultimately change the lives of thousands of children, as well as medical community. That year Dr. Følling received young Norwegian mother and her two children, daughter Liv and son Dag, which developed various degrees of mental retardation, even though both were born perfectly normal.

The girl, who was 6 years old at a time, couldn’t speak more than a few words, and the boy couldn’t eat, drink, talk or even walk on his own. When Dag was one year old, his mother noticed the overwhelming smell of boy’s urine, which was caused by phenylpyruvic acid, as Dr. Følling later discovered. Both children had high amount of phenylpyruvic acid in their urine, condition later known as Phenylketonuria (PKU) disorder, or Følling’s disease. The most interesting part of this story is the fact that neither of children’s’ parents weren’t carriers of this disease.

Although Dr. Følling’s research has saved lives of countless children, he couldn’t do much for Dag and Liv. Dag died at age 6, while Liv, who never learned how to speak, died in a mental institution, aged 51. As we know today, PKU patients can lead a normal and productive life, as long as they stick to the proper diet. However, it took 15 to 20 years after Dr. Følling’s discovery to even found the right food ingredients to finally take PKU disorder under control.

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