title: The Maternal Phenylketonuria Project: a summary of progress and challenges for the future.
abstract: The results of the International Collaborative Study of Maternal phenylketonuria have shown that dietary phenylalanine restriction of women with hyperphenylalaninemia during pregnancy decreases the incidence of mental retardation, microcephaly, congenital heart disease, and intrauterine growth retardation in their offspring. The best results are achieved when treatment is initiated before conception. Psychosocial problems are the most pervasive obstacle to the achievement of optimum dietary treatment. Novel, nondietary approaches to the treatment of maternal phenylketonuria are under development.
authors.affiliation: Division of Clinical and Metabolic Genetics, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada. jtrc@sickkids.ca
authors.forename: Joe T R
authors.initials: JT
authors.lastname: Clarke
mesh_terms: D002648:Child; D002652:Child Behavior; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D007360:Intelligence; D008137:Longitudinal Studies; D015337:Multicenter Studies as Topic; D017042:Phenylketonuria, Maternal / Q000150:complications / Q000178:diet therapy / Q000188:drug therapy; D011247:Pregnancy