Phenylketonuria, Maternal

**Definition:** 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)

**Tree numbers:** - C10.228.140.163.100.687.500 - C12.050.703.575 - C16.320.565.100.766.500 - C16.320.565.189.687.500 - C18.452.132.100.687.500 - C18.452.648.100.766.500 - C18.452.648.189.687.500

**Synonyms:** - Maternal Phenylalanine Hydroxylase Deficiency Disease - Pregnancy in Phenylketonuria - Phenylalanine-Hydroxylase Deficiency Disease, Maternal - PKU, Maternal - Maternal Phenylketonuria