Phenylketonuria in a Woman of Normal Intelligence and Her Child
- 5 May 1966
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 274 (18), 1018-1019
- https://doi.org/10.1056/nejm196605052741809
Abstract
THREE cases are on record in which a phenylketonuric parent has produced a phenylketonuric child.1 2 3 An additional family in which phenylketonuria occurred in 2 successive generations is described below, not only because of the rarity of this event but also because the normal intelligence of the mother raises important questions about the prevention of mental deficiency.Case ReportsCase 1. A 10 1/2-month-old male infant, an only child, was admitted to the hospital because of eczema that had not responded to topical treatment and dietary restrictions. He was noted to have a small head, hyperactive tendon reflexes and obvious behavioral . . .Keywords
This publication has 4 references indexed in Scilit:
- HomocystinuriaJAMA, 1965
- Maternal PhenylketonuriaNew England Journal of Medicine, 1963
- Phenylpyruvic oligophrenia in a jewish childThe Journal of Pediatrics, 1949
- The Genetics of Phenylpyruvic OligophreniaJournal of Mental Science, 1939