The international collaborative study of maternal phenylketonuria: status report 1994 |
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| Authors: | R Koch,HL Levy,R Matalon,B Rouse,WB Hanley,F Trefz,C Azen,EG Friedan,F de la,Cruz ,F Gü ttler,PB Acosta |
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| Affiliation: | Children's Hospital Los Angeles;Division of Medical Genetics and University of Southern California, Los Angeles, CA, Boston Children's Hospital;Biochemical Genetics, Boston, MA, Research Institute;Miami Children's Hospital, Miami, FL, University of Texas Medical Branch;Pediatrics, Galveston, TX, USA, Hospital for Sick Children;Toronto, Canada, Universität Tübingen;Reutlingen, Germany, National Institute of Child Health and Human Development;Bethesda, MD, USA, John F Kennedy Institute;University of Copenhagen, Glostrup, Denmark and Ross Products Division, Abbott Laboratories, Columbus, OH, USA |
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| Abstract: | Neonatal screening for phenylketonuria (PKU) has created a problem as females with PKU are reaching child-bearing age. Surveys have revealed that maternal phenylalanine blood concentrations greater than 1200 μmol/l are associated with fetal microcephaly, congenital heart defects and intrauterine growth retardation. It is estimated that as many as 3000 hyperphenylalaninemic females may be at risk of producing these fetal abnormalities. To examine this problem, the international maternal PKU collaborative study was developed to evaluate the efficacy of a phenylalanine-restricted diet in reducing fetal morbidity. Preliminary findings have indicated that phenylalanine restriction should begin before conception for females with PKU planning a pregnancy. Dietary control should maintain maternal blood phenylalanine levels between 120 and 360 μmol/l and should provide adequate energy, protein, vitamin and mineral intake. Pregnant hyperphenylalaninemic females who achieved metabolic control after conception or by the 10th week of pregnancy had a better offspring outcome than anticipated. The results of 402 pregnancies are reviewed. |
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| Keywords: | Congenital heart disease fetal abnormalities microcephaly phenylketonuria pregnancy |
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