Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study

Pediatric Research
H LevyR Koch

Abstract

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...Continue Reading

References

Jan 1, 1990·Journal of Inherited Metabolic Disease·R KochE Gross Friedman
Dec 1, 1988·The American Journal of Clinical Nutrition·C R Scriver
Jan 1, 1985·Statistics in Medicine·J Cuzick
Mar 1, 1971·Circulation·S C MitchellH W Berendes
Jan 1, 1983·Journal of Inherited Metabolic Disease·C R Scriver, H L Levy
Dec 1, 1994·Acta Paediatrica. Supplement·R KochF Güttler
May 3, 1996·Science·E N Olson, D Srivastava
Mar 1, 1996·Teratology·H L Levy, M Ghavami
Sep 15, 1996·Developmental Biology·R P Harvey
Jul 1, 1996·Prenatal Diagnosis·H L LevyB R Benacerraf
Jul 1, 1997·Pediatric Research·J D McDonaldM L Kirby
Mar 26, 1999·American Journal of Human Genetics·K DevriendtJ R Vermeesch
May 18, 1999·Archives of Disease in Childhood. Fetal and Neonatal Edition·S AinsworthC Wren

❮ Previous
Next ❯

Citations

Feb 6, 2009·Journal of Inherited Metabolic Disease·B KohlschütterK Ullrich
Nov 19, 2002·Current Opinion in Pediatrics·Stephen Cederbaum
Jun 27, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Angela E LinBarbara R Pober
Nov 5, 2003·The Journal of Clinical Investigation·Leslie J CiarleglioJoan H Marks
Jun 7, 2012·Journal of Inherited Metabolic Disease·Raphaël TeissierUNKNOWN AFDPHE (Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant)
Nov 6, 2012·Molecular Genetics and Metabolism·Harvey L Levy
Jun 28, 2008·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·R Teissier, L de Parscau
May 6, 2014·European Journal of Medical Genetics·Seema R Lalani, John W Belmont
Sep 18, 2013·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Min LiJun Zhu
Aug 4, 2010·Molecular Genetics and Metabolism·G M EnnsE Jurecki
Aug 25, 2016·Molecular and Cellular Endocrinology·Patrick Y JayJames M Cheverud
Feb 22, 2017·Obstetrical & Gynecological Survey·Benjamin S HarrisJeffrey A Kuller
Apr 20, 2007·Human Mutation·Charles R Scriver
Sep 25, 2019·Cold Spring Harbor Perspectives in Biology·Jacinta Isabelle Kalisch-SmithDuncan Burnaby Sparrow
Apr 7, 2017·Circulation Journal : Official Journal of the Japanese Circulation Society·Ehiole AkhiromePatrick Y Jay
Jun 27, 2009·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Sofia BouchlariotouGeorge Maroulis
Sep 17, 2005·International Journal of Immunopathology and Pharmacology·R MatalonP Harris
Oct 14, 2017·Orphanet Journal of Rare Diseases·A M J van WegbergF J van Spronsen
Jan 25, 2005·BJOG : an International Journal of Obstetrics and Gynaecology·F J SpronsenJ J H M Erwich

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Aortic Coarctation

Aortic coarctation is a congenital condition characterized by narrowing of the aorta. Discover the latest research on this disease here.