Koch Richard, Azen Colleen, Friedman Eva, Hanley William, Levy Harvey, Matalon Reuben, Rouse Bobbye, Trefz Friedrich, Ning Jiaping, de la Cruz Felix
Childrens Hospital Los Angeles, Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California 90027, USA.
Pediatrics. 2003 Dec;112(6 Pt 2):1519-22.
The Maternal PKU Collaborative Study (MPKUCS) was initiated in 1984 by the National Institute of Child Health and Human Development (NICHD). The purpose was to assess the efficacy of dietary restriction of phenylalanine in reducing morbidity in offspring of women with hyperphenylalaninemia (HPA). A contract was awarded to Childrens Hospital Los Angeles as the Coordinating Center to provide implementation of the research protocol, data collection, and analysis.
The Study included four regional contributing centers: Childrens Hospital Los Angeles (Western Region), Boston Children's Hospital (Northeast Region), University of Illinois (Midwest Region), and University of Texas Medical Branch, Galveston (Southeast Region). Within each region, many participating clinics were responsible for obstetric care, treatment, and monitoring protocols. In 1985, Canada joined the MPKUCS, and in 1992, Germany entered. They were selected because they provided dietary supplies and strong professional services. Acquisition began in 1984 and ended in October 1995. The study included 574 pregnancies in women with HPA and 100 control subjects matched on age, race, parity, and weeks of gestation. The sample included women with blood phenylalanine values >240 micromol/L, 66% of whom had classical PKU, 22% had atypical PKU, and 12% had mild HPA. Informed consents were obtained on all participants. The women ranged in age from 15 to 36 years of age, with a mean age at conception of 23 years. Teenage pregnancies accounted for 19%. Seventy-five percent graduated from high school. Offspring included 416 newborns, 317 of whom were evaluated at 4 years of age and 289 at 6 to 7 years. Follow-up involved medical, nutritional, psychosocial, and psychological assessments.
Women with PKU treated before conception and in control of their blood phenylalanine levels between 120 and 360 micromol/L (2-6 mg) exhibited normal pregnancies and neonatal outcome. Surprisingly, women who achieved control in the recommended range by 8 weeks of pregnancy also had a normal fetal outcome.
