Document Detail

Maternal phenylketonuria: an international study.
MedLine Citation:
PMID:  11001815     Owner:  NLM     Status:  MEDLINE    
Maternal phenylketonuria (PKU) syndrome results in multiple congenital anomalies in the offspring, usually consisting of microcephaly, intrauterine growth retardation, dysmorphology, and congenital heart disease. Pregnancies treated preconceptionally with a phenylalanine-restricted diet and control of maternal blood phenylalanine levels within the recommended range result in normal offspring. However, in this 15-year study, several significant factors resulted in microcephaly in 27% of the offspring, and 7% exhibited serious congenital heart disease. These results occurred chiefly in women with mean IQ scores of 83 associated with low socioeconomic status and decreased educational achievement. Another important factor associated with suboptimal control of blood phenylalanine levels during pregnancy was the fact that most pregnancies were not carefully planned and occurred in women off dietary treatment with phenylalanine-restricted products. These results indicate that greater effort must be developed to assist women with PKU in remaining on diet during their reproductive years. It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development.
R Koch; W Hanley; H Levy; R Matalon; B Rouse; F Trefz; F Guttler; C Azen; E Friedman; L Platt; F de la Cruz
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  71     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:    2000 Sep-Oct
Date Detail:
Created Date:  2000-11-13     Completed Date:  2000-11-13     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  233-9     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Academic Press.
Children's Hospital of Los Angeles, University of Southern California Los Angeles, California 90027, USA.
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MeSH Terms
Heart Defects, Congenital / etiology
Infant, Newborn
Phenylalanine / blood
Phenylketonurias / complications*,  diet therapy,  psychology
Pregnancy Complications / diet therapy*,  psychology
Pregnancy Outcome
Grant Support
Reg. No./Substance:

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

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