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April 1957

Studies on PhenylketonuriaVI. EEG Studies in Phenylketonuria

Author Affiliations

Salt Lake City

From the Departments of Pediatrics, Medicine, and Biological Chemistry, and the Laboratory for the Study of Hereditary and Metabolic Disorders, University of Utah College of Medicine; and the Utah State Training School, American Fork, Utah.

AMA Arch NeurPsych. 1957;77(4):359-365. doi:10.1001/archneurpsyc.1957.02330340035003
Abstract

Phenylketonuria is a condition in which there is an inherited biochemical defect in the normal oxidation of phenylalanine to tyrosine. This abnormality was first recognized and described by Fölling1 in 1934; the term phenylketonuria, suggested by Penrose and Quastel,2 has been used by many recent investigators. Extensive clinical reports3-8 and further chemical investigations of urine,9-13 blood,4,5,7,11-18 spinal fluid,14 and brain19,20 have been published subsequently.

Persons with this defect are almost always mentally retarded, usually to a severe degree. Most authors make no comment, or only incidental mention, of seizures in patients with phenylketonuria, but Cowie,16 Woolf and Vulliamy,4 and Bosma and associates8 have commented upon the frequency of coincident epilepsy. Penrose21 mentioned in 1946 that some affected children had seizures but that he had never observed them in phenylketonuric adults. The incidence of this disease in the population at

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