MATERNAL PKU COLLABORATIVE STUDY

COORDINATING CENTER

CHILDRENS HOSPITAL LOS ANGELES


WHAT IS THE MATERNAL PKU COLLABORATIVE STUDY?

The success of the nationwide neonatal phenylketonuria (PKU) screening programs implemented in the early 1960's created an unexpected problem as women with PKU reached childbearing age. Retrospective surveys have revealed that maternal blood phenylalanine (phe) levels > 20 mg/dl during pregnancy are associated with a high rate of mental retardation, microcephaly, congenital heart defects, and intrauterine growth retardation among non-PKU offspring, of women with Hyperphenylalaninemia (HPA). It is estimated that at least 3,000 HPA women, between the ages of 16 and 26 are at risk for pregnancy in the United States and Canada.

To study this problem, the National Institute of Child Health and Human Development, NIH, launched a collaborative effort involving fifty states, the District of Columbia, and all of the provinces of Canada. In 1992, Germany, Austria and Switzerland have joined the Study. The Maternal PKU Collaborative Study (MPKUCS) is a prospective, longitudinal, observational investigation designed to evaluate the efficacy of a phenylalanine-restricted diet in reducing the morbidity associated with Maternal Hyperphenylalaninemia (HPA).

The enrollment of HPA subjects commenced on November l, 1984, and ended on June 30, 1995. Women of childbearing age, whose blood phenylalanine (Phe) concentrations while on unrestricted diets are > 4 mg/dl, were invited to participate in the Study. Women > 14 years of age were encouraged to enroll in the MPKUCS independent of plans for pregnancy, in order to identify and counsel them about the importance of initiating dietary therapy prior to conception.

The plan of treatment for women desiring pregnancy involved the initiation of diet prior to conception, the provision of adequate nutrition during pregnancy, maintaining blood phe between 2-6 mg/dL, and dietary supplementation with tyrosine and other micronutrients, as medically indicated.

For purposes of the Study's protocol, monitoring during pregnancy includes routine prenatal examinations, laboratory tests, nutritional evaluations, and ultrasound for the determination of gestational age and intrauterine growth. Offspring will be followed to school age to assess physical, neurological, cognitive, behavioral and psychosocial development. Data are also being collected on office-matched, and on familial control subjects, on pregnant obligate heterozygotes for PKU, and on pregnant mates of HPA males.

Coordinating Center

Contributing Centers

North East Region
Canada
South East Region
Midwest Region
Western Region
Germany

Schedule of Assessments


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Pages last updated 5/28/97