Asbjørn Følling and the discovery of phenylketonuria.
In 1934, the Norwegian biochemist and physician Asbjørn Følling described an inherited metabolic disorder characterized by severe intellectual impairment, motor problems, and skin abnormalities. He found that affected individuals could be identified by the abnormal excretion of phenylpyruvic acid in their urine. The disorder, which Følling initially termed imbecillitas phenylpyrouvica, would later come to be known as phenylketonuria or PKU. The present paper focuses on the story of Følling's discovery and his subsequent contributions to the area of study. In the years that have followed, research on PKU has continued to play a major role in the neurosciences, shaping our understanding of genetic disorders, human metabolism, and brain development.
Christ
Shawn E
SE
Department of Psychology, Campus Box 1125, Washington University, St. Louis, MO 63130-4899, USA. sechrist@artsci.WUSTL.edu
D005260:Female; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D008297:Male; D009664:Norway; D010661:Phenylketonurias / Q000175:diagnosis / Q000266:history*; D010667:Phenylpyruvic Acids / Q000652:urine
D010667:Phenylpyruvic Acids; C031606:phenylpyruvic acid