Document Detail


Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies.
MedLine Citation:
PMID:  7421947     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Since many women with phenylketonuria (PKU) will have children of their own, we were interested in ascertaining the effect of maternal PKU and hyperphenylalaninemia on the offspring of such women. We reviewed the literature on this subject and obtained additional unpublished data through an international survey. Data were collected on 524 pregnancies in 155 women; in 34 pregnancies a low-phenylalanine diet was begun after or shortly before pregnancy was established. Among untreated pregnancies, the frequencies of mental retardation, microcephaly, and congenital heart disease were greatly increased over those in the normal population, and these increases correlated with the mother's blood levels of phenylalanine. Ninety-five per cent of mothers with blood phenylalanine concentrations of 20 mg per deciliter or higher had at least one mentally retarded child. Bias introduced by case-finding methods cannot explain these results. It is not clear from our review whether dietary treatment begun after conception is helpful, but treatment begun before conception should be evaluated.
Authors:
R R Lenke; H L Levy
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The New England journal of medicine     Volume:  303     ISSN:  0028-4793     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  1980 Nov 
Date Detail:
Created Date:  1980-12-18     Completed Date:  1980-12-18     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1202-8     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Abortion, Spontaneous / etiology
Birth Weight
Female
Heart Defects, Congenital / etiology
Humans
Infant, Newborn
Intelligence
Mental Retardation / etiology
Microcephaly / etiology
Phenylalanine / blood*
Phenylketonurias / diet therapy*,  prevention & control
Pregnancy
Pregnancy Complications / diet therapy*
Tyrosine / blood
Grant Support
ID/Acronym/Agency:
HSA 79-12P/HS/AHRQ HHS; NS 05096/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
55520-40-6/Tyrosine; 63-91-2/Phenylalanine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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