Patricia Williams

The Mother Who Smelled Something Wrong. In the spring of 1934, a Norwegian woman named Borgny Egeland walked into Oslo University Hospital with a question that no doctor in the country had been able to answer. Her two children, Liv, age six, and Dag, age four, had been born normal and then stopped developing. They could not speak. Dag could not sit without support. She had taken them to doctor after doctor for years. None of them could tell her why. What none of them had noticed, or asked about, was the smell. Borgny had been noticing it for years: a sharp, musty odor in her children's urine. She mentioned it to a physician colleague of her husband, who happened to know of an unusual doctor at the university hospital. His name was Asbjørn Følling, and before becoming a medical doctor he had trained as a chemical engineer. He agreed to see the children mainly, as he later admitted, "because I did not want to be hostile to the mother." Følling ran the standard battery of urine tests in his improvised attic laboratory. All came back normal. Then, almost as an afterthought, he added a few drops of ferric chloride, a routine reagent used to detect diabetic ketones. The solution was supposed to turn purple. It turned a vivid, unprecedented green. He checked the medical literature. No one had ever recorded this reaction before. He checked both children's samples again a week later. Green again. Over the next six weeks, working mostly alone, Følling processed twenty-two liters of the Egeland children's urine under an inert nitrogen atmosphere, filtering, isolating, purifying, until he identified the unknown compound: phenylpyruvic acid, a substance never previously found in a living human body. He then screened 420 intellectually disabled patients at institutions across Oslo. Eight more tested positive, including two siblings. Five months after Borgny first walked through his door, Følling published his paper identifying a previously unknown inherited metabolic disease. He called it oligophrenia phenylpyruvica. The world would rename it phenylketonuria, PKU. Today, every baby born in the developed world is tested for it in the first days of life, and a simple dietary adjustment begun at birth prevents the intellectual disability entirely. Untreated, the condition destroys the developing brain. Caught in time, children with PKU grow up without any impairment at all. Asbjørn Følling received the Fridtjof Nansen Prize, the Anders Jahres Award, and the Kennedy Foundation Award. He received honorary degrees and state honors across Europe. He did not receive the Nobel Prize. In the words of his field, he is "by many considered the most important medical scientist never to receive the Nobel Prize for Physiology or Medicine." He found the answer in the smell no one else had asked about.