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In 1934 at Rikshospitalet, 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 ).

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