Maternal Phenylketonuria Collaborative Study (MPKUCS): USA and Canada

Abstract

Surveys of untreated Maternal PKU revealed that maternal blood phenylalanine (phe) levels ¦ 20 mg/dl during pregnancy are associated with birth defects among non‐PKU offspring of women with Hyperphenylalaninemia (HPA). To study this problem, NICHD‐NIH initiated a collaborative effort involving all of the United States and Canada. The MPKUCS is a prospective, longitudinal, observational investigation designed to evaluate the efficiacy of the phe restricted diet in reducing morbidity associated with Maternal HPA (MHPA). Women of childbearing age whose blood phe concentrations on unrestricted diet are ¦ 4 mg/dl, are invited to participate in the Study. The treatement plan consists of provision of adequate nutrition during pregnancy, offering dietary restriction of phe to HPA women with blood phe concentrations ¦ 10 mg/dl prior to conception and supplementation with tyrosine and other micronutrients, if medically indicated. Offspring will be followed for 6 years to assess physical, neurological, cognitive and psychosocial development. Control and comparison groups also will be followed.