Ivar Asbjørn Følling

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Ivar Asbjørn Følling
Born(1888-08-23)23 August 1888
Died24 January 1973(1973-01-24) (aged 84)
Education Norwegian Institute of Technology, Trondheim; University of Kristiania
Known forDiscovery of phenylketonuria
Awards Fridtjof Nansen Prize for Outstanding Research, 1949; Knight 1st Grade of Order of St. Olav, 1958; Gunnerus Medal, 1966
Scientific career
FieldsMedicine, biochemistry, genetics
Institutions University of Oslo, Oslo University Hospital

Ivar Asbjørn Følling (23 August 1888 – 24 January 1973) was a Norwegian physician and biochemist. He first described the disease commonly known as Følling's disease or phenylketonuria (PKU). [1] [2] [3]

Contents

Early life and education

He was born on 23 August 1888 at Kvam (in the present-day Steinkjer Municipality in Trøndelag county, Norway). Følling studied chemistry at the Norwegian Institute of Technology in Trondheim and graduated in 1916. He then went to the University of Kristiania (now the University of Oslo), graduating in medicine in 1922.[ citation needed ]

He received his cand.med. 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 Norwegian national research hospital Oslo University Hospital. Følling was a professor of biochemistry at the University of Oslo for more than 30 years. He retired in 1958. [4]

Career

Discovery

In 1934 at Oslo University Hospital, 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 in his urine. Følling obtained urine samples from the children and, after many tests, 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 a hereditary deficiency of the necessary enzyme which is called phenylalanine hydroxylase. [5]

Perspective

Følling's discovery provided the basis for the so-called metabolic screening of newborns. 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. Følling's 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. [6] 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". [7]

Honours

Death

He died on 24 January 1973.[ citation needed ]

Related Research Articles

<span class="mw-page-title-main">Phenylketonuria</span> Amino acid metabolic disorder

Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, seizures, behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.

<span class="mw-page-title-main">Neonatal heel prick</span> Blood collection procedure for newborns

The neonatal heel prick is a blood collection procedure done on newborns. It consists of making a pinprick puncture in one heel of the newborn to collect their blood. This technique is used frequently as the main way to collect blood from neonates. Other techniques include venous or arterial needle sticks, cord blood sampling, or umbilical line collection. This technique is often utilized for the Guthrie test, where it is used to soak the blood into pre-printed collection cards known as Guthrie cards.

<span class="mw-page-title-main">Phenylalanine hydroxylase</span> Mammalian protein found in Homo sapiens

Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine. PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH4, a pteridine cofactor) and a non-heme iron for catalysis. During the reaction, molecular oxygen is heterolytically cleaved with sequential incorporation of one oxygen atom into BH4 and phenylalanine substrate. In humans, mutations in its encoding gene, PAH, can lead to the metabolic disorder phenylketonuria.

<span class="mw-page-title-main">Newborn screening</span> Practice of testing infants for diseases

Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guthrie also pioneered the collection of blood on filter paper which could be easily transported, recognizing the need for a simple system if the screening was going to be done on a large scale. Newborn screening around the world is still done using similar filter paper. NBS was first introduced as a public health program in the United States in the early 1960s, and has expanded to countries around the world.

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Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems. In healthy individuals, it is metabolised (hydroxylated) into tyrosine, another amino acid, by phenylalanine hydroxylase. However, this enzyme requires tetrahydrobiopterin as a cofactor and thus its deficiency slows phenylalanine metabolism.

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References

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  2. Fölling, Asbjörn (1934). "Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität". Hoppe-Seyler's Zeitschrift für physiologische Chemie. 227 (1–4): 169–181. doi:10.1515/bchm2.1934.227.1-4.169.
  3. Centerwall, S. A.; Centerwall, W. R. (2000). "The discovery of phenylketonuria: the story of a young couple, two affected children, and a scientist". Pediatrics. 105 (1 Pt 1): 89–103. doi:10.1542/peds.105.1.89. PMID   10617710. S2CID   35922780.
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