Undiagnosed maternal phenylketonuria: own clinical experience and literature review

Abstract

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU are caused by mutations in the PAH gene. Untreated PKU is associated with an abnormal phenotype, which includes growth failure, seizures, global developmental delay and severe intellectual impairment. The maternal PKU (MPKU) syndrome is caused by high blood Phe concentrations during pregnancy and presents with serious foetal anomalies, especially microcephaly, congenital heart disease and mental retardation. However, since the introduction of newborn screening programs and with early dietary intervention, children born with PKU can now expect to lead relatively normal lives. We present the case of a 33-year-old woman who had been diagnosed as having PKU only after a pregnancy with MPKU embryopathy, to emphasize that undiagnosed maternal phenylketonuria still exists. On that ground, we reviewed updated literature on the pathogenesis of this syndrome, possibility of prophylaxis and treatment.