NEW YORK (Reuters Health) - Pregnant women with poorly controlled phenylketonuria (PKU) face an increased risk of congenital anomalies in their offspring, according to a report in the February issue of the Journal of Pediatrics. The authors call for renewed emphasis on dietary control of PKU.
Dr. Bobbye Rouse from Children’s Hospital University of Texas Medical Branch, Galveston and Colleen Azen from Children’s Hospital Los Angeles note that previous research has demonstrated increased rates of mental retardation, microcephaly, low birth weight and congenital heart defects in offspring of untreated women with PKU.
To further investigate the relationship, the researchers examined phenylalanine levels in 526 women with PKU and congenital anomalies in their offspring.
The percentage of offspring having more than three dysmorphic features increased from 19% in those of mothers with dietary control of their phenylalanine levels before pregnancy to 62% when control was not attained before 20 weeks’ gestation. Later phenylalanine control was also associated with increasing rates of intrauterine growth restriction and postnatal growth restriction.
Microcephaly was related to the time of maternal phenylalanine control and reached 67% in offspring of mothers not in control by 30 weeks’ gestation. Congenital heart defects affected only 4% of offspring of mothers with phenylalanine control between 0 and 10 weeks’ gestation, but 13% of offspring whose mothers achieved phenylalanine control after 20 weeks’ gestation.
Moreover, the IQ of offspring decreased as the average phenylalanine exposure increased, especially when the infants had both congenital heart disease and microcephaly.
The authors conclude that women with PKU “need to be educated on the importance of diet for life. This should help with the compliance essential to improve offspring outcomes and result in fewer congenital abnormalities.”
Source: J Pediatr 2004;144:235-239 [ Google search on this article ]
MeSH Headings:Behavioral Sciences: Data Collection: Demography: Behavioral Disciplines and Activities: Environment and Public Health: Epidemiologic Methods: Health: Health Occupations: Health Services Administration: Information Science: Medicine: Investigative Techniques: Phenylketonurias: Population Characteristics: Pregnancy Outcome: Preventive Medicine: Public Health: Quality of Health Care: Social Sciences: Specialties, Medical: Vital Statistics: Epidemiologic Measurements: Phenylketonuria, Maternal: Health Care Quality, Access, and Evaluation: Health Care Evaluation Mechanisms: Analytical, Diagnostic and Therapeutic Techniques and Equipment: Anthropology, Education, Sociology and Social Phenomena: Biological Sciences: Health Care: Information Science: Psychiatry and PsychologyCopyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
