Følling's Disease

  

                                                    Ernst Schulze and Johann Barbieri 

                               Phenylalanine was first isolated in 1879 from lupin seedlings

                                          Phenylalanine: Constituent Of Plant Proteins

 

 

 Phenylalanine 

 

 

 

 

First inborn errors of metabolism linked to a specific amino acid pathway. 

 

Biochemical Genetics 

 

Phenylalanine To Phenylketonuria

 

Discovered By  Asbjørn Følling  aka  Følling's disease

 

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 intellectual disability. 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 

 

  He identified elevated phenylpyruvic acid in the urine of children with intellectual disability

 

 

 

 

 

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