Studies on Phenylketonuria
- 1 April 1957
- journal article
- other
- Published by American Medical Association (AMA) in A.M.A. Archives of Neurology & Psychiatry
- Vol. 77 (4) , 359-365
- https://doi.org/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 Fölling1in 1934; the term phenylketonuria, suggested by Penrose and Quastel,2has been used by many recent investigators. Extensive clinical reports3-8and further chemical investigations of urine,9-13blood,4,5,7,11-18spinal fluid,14and brain19,20have 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,16Woolf and Vulliamy,4and Bosma and associates8have commented upon the frequency of coincident epilepsy. Penrose21mentioned 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 atKeywords
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