G. Jervis
Aug 1, 1947
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1
Influential Citations
162
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Journal
The Journal of biological chemistry
Abstract
Phenylpyruvic oligophrenia is a disease characterized clinically by mental defect and biochemically by the presence in the urine of phenylpyruvic acid (l-3) and phenylalanine (4, 5). In addition, abnormally high amounts of phenylalanine are found in the blood (4, 6). Although there is little doubt that the condition is an error of metabolism of phenylnlanine, which is inborn and inherited as a recessive Mendelian character (7, S), the exact nature of the metabolic abnormality is still imperfectly known. It was the purpose of the investigation here reported to det,ermine at what stage in the metabolic pathway of phenylalanine the error occurs. Evidence will be presented which indicates that in the fasting normal organism the ingestion of phenylalanine is followed by a significant increase of substances in the blood giving a Millon reaction, while in patients suffering from phenylpyruvic oligophrenia no increase takes place. This finding seems to indicate that the metabolic error which is at the base of phenylpyruvic oligophrenia lies in the inability normally to bring about the hydroxylation of phenylalanine.