A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)
Also Known As:
Phenylketonuria, Maternal; PKU, Maternal; Phenylalanine-Hydroxylase Deficiency Disease, Maternal; Phenylalanine Hydroxylase Deficiency Disease, Maternal; Phenylketonuria, Pregnancy in; Maternal Phenylalanine Hydroxylase Deficiency Disease; Pregnancy in Phenylketonuria