It was the Norwegian Asbjørn Følling who discovered this disease, and hence gave it its name. Følling was a professor in biochemistry at the University of Oslo, and was internationally known for his discovery of relationships between certain metabolic disorders and brain development: A pioneering work that led to the metabolic routine studies of newborns.
Følling was the son of a farmer, but chose an academic education. In 1916, he got an engineering degree from NTNU, and in 1922, he got a MD from the University of Oslo. He later founded a clinical laboratory at Rikshospitalet (the National Hospital) in Oslo.
His big discovery came in 1934, after he was contacted by a Norwegian family with two mentally retarded children. They were born after a normal pregnancy and had a normal development the first months. The following months, both children began to show increasing signs of brain damage, in addition to a conspicuous odor. Følling asked for a simple urine sample from both the children, and his historic discovery was by adding iron chloride into the urine. This test, also called ‘Gerhard’s test’, was a normal examination routine at that time and it was used to detect ketosis and acetone in the urine. By adding iron chloride, the sample would normally turn violet. What happened to the urine from the two children was something Følling had never seen before: It developed a very special deep green color which after a few minutes disappeared. Følling realized he had discovered something special.
In the further process, Følling was able to show that the active substance that gave the green color was phenylpyruvic acid, a drug that most likely came from the amino acid phenylalanine. The urine from the two children contained large amounts of this drug.
Følling’s discovery formed the basis for the so-called metabolic screening of newborns, which are currently carried out in all industrialized countries. A blood sample is taken after 3-4 days and analyzed. A high level of phenylalanine suggests Følling’s disease. If the diagnosis is confirmed, the child is put on a special diet that contains the right amount of phenylalanine that is necessary for normal growth and development. With the right treatment the child will develop normally, but such a diet must therefore start before the child is injured.
Følling received several prestigious awards for his medical research, and it has been said that ‘Følling is by many considered the most important medical scientist not to receive the Nobel Prize for Physiology or Medicine.’
Text by: Anette Broteng Christiansen, ThorNews
Source: Store Norske Leksikon, Wikipedia
Categories: Sports & Health