Asbjorn Folling

Asbjorn Folling (1888-1973, "No:Asbjørn Følling") was a Norwegian physician and biochemist who first described the disease named after him -- Folling's disease -- which is better known outside of Norway as phenylketonuria or, for short, PKU. He was born in Kvam, Steinkjer.

Life

Folling studied chemistry at The Norwegian Institute of Technology in Trondheim and graduated in 1916. He then went to the Kristiania University in Oslo, graduating in medicine in 1922. He received his medical doctorate (somewhat like a PhD in Medicine) in 1929 after doing postgraduate work in Norway and abroad (in Denmark, England, Vienna and the U.S.). Starting in 1932 Folling occupied a series of medical posts in Oslo, culminating in his being Professor of Biochemistry and Physician-in-Chief at the central laboratory at the Rikshospitalet, which is the Norwegian national research hospital. He retired in 1958.

Discovery

In 1934 at the Rikshospitalet Dr. Folling saw a young woman named Borgny Egeland. She had two children, Liv and Dag, who had been normal at birth but subsequently developed mental retardation. When Dag was about a year old, the mother noticed a strong smell to his urine. Dr. Folling obtained urine samples from the children and, after many tests, he found that the substance causing the odor in the urine was phenylpyruvic acid. The children, he concluded, had excess phenylpyruvic acid in the urine, a condition called phenylketonuria (PKU).

This abnormal condition reflects an inability to break down the amino acid phenylalanine due to an hereditary deficiency of the necessary enzyme which is called phenylalanine hydroxylase.

Today a screening blood test for PKU is done on newborns to detect the disease. With a special diet low in phenylalanine, PKU newborns can grow and develop into normal children and adults.

Perspective

Dr. Folling's brilliant work was too late to save Liv and Dag from severe progressive mental retardation (and in Dag's case, death) but it has saved thousands of children since then.

It has been said that: "Folling is by many considered the most important medical scientist not to receive the Nobel Prize for Physiology or Medicine." [http://www.whonamedit.com/doctor.cfm/2400.html]

ources

* [http://www.whonamedit.com/doctor.cfm/2400.html Biography] in Who Named It

*Translation of entry to Folling in the French Wikipedia

* [http://www.nrk.no/underholdning/store_norske/4380724.html Great Norwegians] (In Norwegian)

* [http://www.tidsskriftet.no/?seks_id=197640 The first evidence of links between brain development and metabolism.]