Document Detail

Maternal phenylketonuria: a metabolic teratogen.
MedLine Citation:
PMID:  8761885     Owner:  NLM     Status:  MEDLINE    
The maternal phenylketonuria (PKU) syndrome refers to the teratogenic effects of PKU during pregnancy. These effects include mental retardation, microcephaly, congenital heart disease, and intrauterine growth retardation. In untreated pregnancies wherein the mother has classic PKU with a blood phenylalanine level > or = 1,200 microM (20 mg/dl), the frequencies of these abnormalities in offspring are exceedingly high, approaching 75-90% for microcephaly and mental retardation and 15% for congenital heart disease. There is a dose response relationship with progressively lower frequencies of these abnormalities at lower phenylalanine levels, both in the pregnancies of women with variants of PKU and in treated classic PKU pregnancies. The pathogenesis of this syndrome is unknown; it may be related to inhibition by phenylalanine of large neutral amino acid transport across the placenta or to direct toxicity of phenylalanine and/or a phenylalanine metabolite in certain fetal organs. A mouse model for PKU now exists, and studies of maternal PKU in this model are in progress. The treatment of maternal PKU consists of biochemical control through a phenylalanine restricted diet during pregnancy. The best results are obtained with diet initiation before conception or no later than the earliest weeks of pregnancy. Women with PKU and their families require much psychosocial support to meet the strict requirements of a maternal PKU pregnancy, including compliance with a difficult diet. With such compliance, however, it seems that bearing normal or near normal offspring is possible.
H L Levy; M Ghavami
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Teratology     Volume:  53     ISSN:  0040-3709     ISO Abbreviation:  Teratology     Publication Date:  1996 Mar 
Date Detail:
Created Date:  1996-10-24     Completed Date:  1996-10-24     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0153257     Medline TA:  Teratology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  176-84     Citation Subset:  IM    
Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
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MeSH Terms
Abnormalities, Multiple / etiology*
Alcoholism / diagnosis
Diagnosis, Differential
Disease Models, Animal
Face / abnormalities
Fetal Alcohol Syndrome / diagnosis
Fetal Growth Retardation / etiology
Genetic Counseling
Heart Defects, Congenital / etiology
Infant, Newborn
Mental Retardation / etiology
Microcephaly / etiology
Phenylketonurias / diagnosis,  prevention & control*
Pregnancy Complications / diagnosis,  prevention & control*
Grant Support

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

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