Maternal phenylketonuria (PKU)--a review

Abstract

This review points out the very high incidence of damage to the fetus in untreated maternal phenylketonuria (PKU). In classical cases, 92% of the offspring are mentally retarded, 73% have microcephaly, 40% are growth retarded at birth, and 12% have congenital anomalies. Less severe types of PKU and its variants and patients treated with a low phenylalanine diet during pregnancy have a much lower incidence of these defects in their offspring. Very promising results have been obtained in a small number of preconception and early first trimester treated patients under very strict dietary control. Nutrition of the mother and fetus is a major concern during the application of this restrictive diet and must be monitored closely to avoid fetal damage from malnutrition. A 7-year collaborative study of maternal PKU began in November 1984 in the US and Canada, but even in this well publicized study, many patients are presenting late for treatment. It is suggested that premarital and/or prenatal screening for maternal PKU should be initiated for the next generation.