Ivar Asbjørn Følling
Encyclopedia
Ivar Asbjørn Følling was a Norwegian
physician
and biochemist
who first described the disease named after him -- Følling's disease -- which is better known outside of Norway as phenylketonuria
or, for short, PKU
. He was born in Kvam, Steinkjer
.
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 Følling 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.
, Dr. Følling 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. Følling 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, the condition which came to be 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.
(and in Dag's case, death) but it has saved thousands of children since then.
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."http://www.whonamedit.com/doctor.cfm/2400.html
Norway
Norway , officially the Kingdom of Norway, is a Nordic unitary constitutional monarchy whose territory comprises the western portion of the Scandinavian Peninsula, Jan Mayen, and the Arctic archipelago of Svalbard and Bouvet Island. Norway has a total area of and a population of about 4.9 million...
physician
Physician
A physician is a health care provider who practices the profession of medicine, which is concerned with promoting, maintaining or restoring human health through the study, diagnosis, and treatment of disease, injury and other physical and mental impairments...
and biochemist
Biochemist
Biochemists are scientists who are trained in biochemistry. Typical biochemists study chemical processes and chemical transformations in living organisms. The prefix of "bio" in "biochemist" can be understood as a fusion of "biological chemist."-Role:...
who first described the disease named after him -- Følling's disease -- which is better known outside of Norway as phenylketonuria
Phenylketonuria
Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
or, for short, PKU
Phenylketonuria
Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
. He was born in Kvam, Steinkjer
Steinkjer
is a town and a municipality in Nord-Trøndelag county, Norway. It is part of the Innherad region. The administrative centre of the municipality is the town of Steinkjer, which is also the seat of the county government...
.
Life
Følling studied chemistryChemistry
Chemistry is the science of matter, especially its chemical reactions, but also its composition, structure and properties. Chemistry is concerned with atoms and their interactions with other atoms, and particularly with the properties of chemical bonds....
at The Norwegian Institute of Technology
Norwegian Institute of Technology
The Norwegian Institute of Technology, known by its Norwegian abbrevation NTH was a science institute in Trondheim, Norway. It was established in 1910, and existed as an independent technical university for 85 years, after which it was merged into the University of Trondheim as an independent...
in Trondheim
Trondheim
Trondheim , historically, Nidaros and Trondhjem, is a city and municipality in Sør-Trøndelag county, Norway. With a population of 173,486, it is the third most populous municipality and city in the country, although the fourth largest metropolitan area. It is the administrative centre of...
and graduated in 1916. He then went to the Kristiania University in Oslo
Oslo
Oslo is a municipality, as well as the capital and most populous city in Norway. As a municipality , it was established on 1 January 1838. Founded around 1048 by King Harald III of Norway, the city was largely destroyed by fire in 1624. The city was moved under the reign of Denmark–Norway's King...
, 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
Denmark
Denmark is a Scandinavian country in Northern Europe. The countries of Denmark and Greenland, as well as the Faroe Islands, constitute the Kingdom of Denmark . It is the southernmost of the Nordic countries, southwest of Sweden and south of Norway, and bordered to the south by Germany. Denmark...
, England
England
England is a country that is part of the United Kingdom. It shares land borders with Scotland to the north and Wales to the west; the Irish Sea is to the north west, the Celtic Sea to the south west, with the North Sea to the east and the English Channel to the south separating it from continental...
, Vienna
Vienna
Vienna is the capital and largest city of the Republic of Austria and one of the nine states of Austria. Vienna is Austria's primary city, with a population of about 1.723 million , and is by far the largest city in Austria, as well as its cultural, economic, and political centre...
and the U.S.). Starting in 1932 Følling 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
Rikshospitalet
Rikshospitalet is located in Oslo, Norway. From January 1, 2009, the hospital is part of Oslo University Hospital....
, which is the Norwegian national research hospital. He retired in 1958.
Discovery
In 1934 at RikshospitaletRikshospitalet
Rikshospitalet is located in Oslo, Norway. From January 1, 2009, the hospital is part of Oslo University Hospital....
, Dr. Følling 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. Følling 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, the condition which came to be called phenylketonuria
Phenylketonuria
Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
(PKU).
This abnormal condition reflects an inability to break down the amino acid
Amino acid
Amino acids are molecules containing an amine group, a carboxylic acid group and a side-chain that varies between different amino acids. The key elements of an amino acid are carbon, hydrogen, oxygen, and nitrogen...
phenylalanine
Phenylalanine
Phenylalanine is an α-amino acid with the formula C6H5CH2CHCOOH. This essential amino acid is classified as nonpolar because of the hydrophobic nature of the benzyl side chain. L-Phenylalanine is an electrically neutral amino acid, one of the twenty common amino acids used to biochemically form...
due to an hereditary deficiency of the necessary enzyme
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
which is called phenylalanine hydroxylase
Phenylalanine hydroxylase
Phenylalanine hydroxylase is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine. PheOH is one of three members of the pterin-dependent amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin and a non-heme iron for...
.
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. Følling's brilliant work was too late to save Liv and Dag from severe progressive mental retardationMental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
(and in Dag's case, death) but it has saved thousands of children since then.
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."http://www.whonamedit.com/doctor.cfm/2400.html
Sources
- Biography in Who Named It
- Translation of entry to Følling in the French Wikipedia
- Great Norwegians (In Norwegian)
- The first evidence of links between brain development and metabolism.