Document Detail

Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.
MedLine Citation:
PMID:  11328945     Owner:  NLM     Status:  MEDLINE    
The frequency and types of congenital heart disease in offspring from pregnancies in women with hyperphenylalaninemia were examined in the international prospective Maternal Phenylketonuria Collaborative Study. Relationships of congenital heart disease in offspring to the basal blood phenylalanine level in the mother, metabolic control through diet during pregnancy, and phenylalanine hydroxylase mutations in mother and offspring were determined. The 416 offspring from 412 maternal phenylketonuria pregnancies that produced live births and 100 offspring from the 99 control pregnancies were included in this examination. Thirty-four of the 235 offspring (14%; 95% CI, 10.2 to 19.6%) from pregnancies in phenylketonuric women with a basal phenylalanine level > or = 900 microM (15 mg/dL) [normal blood phenylalanine < 120 microM (2 mg/dL)] and not in metabolic control [phenylalanine level < or = 600 microM (10 mg/dL)] by the eighth gestational week had congenital heart disease compared with one control offspring (1%) with congenital heart disease. One offspring among the 50 (2%) from mothers with non-phenylketonuria mild hyperphenylalaninemia also had congenital heart disease. Coarctation of the aorta and hypoplastic left heart syndrome were overrepresented compared with expected percentages among those with congenital heart disease in the general population. A basal maternal phenylalanine level > 1800 microM (30 mg/dL) significantly increased the risk for bearing a child with congenital heart disease (p = 0.003). Phenylalanine hydroxylase mutations in the mothers and offspring did not have an independent relationship to congenital heart disease but were related through the basal maternal phenylalanine levels. The data in this study indicate that a basal maternal phenylalanine level of 900 microM may be a threshold for congenital heart disease, that women with the most severe degree of phenylketonuria are at highest risk for bearing such a child, and that prevention of the congenital heart disease requires initiation of the low phenylalanine diet before conception or early in pregnancy with metabolic control no later than the eighth gestational week.
H L Levy; P Guldberg; F Güttler; W B Hanley; R Matalon; B M Rouse; F Trefz; C Azen; E N Allred; F de la Cruz; R Koch
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Publication Detail:
Type:  Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Pediatric research     Volume:  49     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2001 May 
Date Detail:
Created Date:  2001-04-30     Completed Date:  2001-06-28     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  636-42     Citation Subset:  IM    
Division of Genetics and Neuroepidemiology Unit, Children's Hospital, Boston, Massachusetts 02115, USA.
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MeSH Terms
Heart Defects, Congenital / epidemiology,  etiology*,  ultrasonography
Phenylalanine Hydroxylase / genetics
Phenylketonurias / complications*,  genetics
Prospective Studies
Ultrasonography, Prenatal
United States / epidemiology
Grant Support
Reg. No./Substance:
EC Hydroxylase

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

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