Study of Maternal PKU (Phenylketonuria) and Hyperphenylalaninemia

摘要

The purpose of the study was to answer three major questions confronting young women with PKU, their families, and those involved in the care of PKU: does fetal damage occur at any level of maternal hyperphenylalaninemia or only when the mother has classic PKU; will control of the maternal biochemical abnormalities (phenylalanine level, tyosine level, and phenylketone accumulation) during pregnancy by the administration of a low-phenylalanine diet and perhaps tyosine supplementation prevent fetal damage; and what type and degree of medical and social care and follow up will be necessary so that women with PKU will be given optimal advice and treatment in regard to childbearing.