PHENYLPYRUVIC oligophrenia (imbecillitas phenylpyruvica) was first described by Følling1 in 1934. Since that time, reports of approximately 300 cases have appeared in the literature, the majority of these cases having been recorded by Jervis.2 Dann and his associates3 reported an incidence of 0.8 per cent among institutionalized feebleminded persons. Holt and Howland4 estimated that patients with phenylpyruvic oligophrenia comprise 1 to 2 per cent of all mentally defective persons. Medlicott5 found 2 cases among 190 mentally defective persons examined (an incidence of 1.1 per cent).
This malady is characterized by severe mental deficiency, neurologic manifestations and the abnormal finding of phenylpyruvic acid in the urine. Most patients exhibit definite physical features6; i. e., they are usually well developed, obese, attractive persons with blond hair, a fair complexion and blue eyes. The mental retardation is generally more pronounced than that accompanying mongolism and other types
WARTHEN RO, TANDETA M, WILLIAMS JM. PHENYLPYRUVIC OLIGOPHRENIATwo Cases of Siblings. Am J Dis Child. 1949;78(5):759-762. doi:10.1001/archpedi.1949.02030050776014