Maternal PKU: A maternal condition which occurs in untreated or partially treated phenylketonuric females when they become pregnant. This may result in damage to the fetus, including microcephaly, mental retardation, congenital heart disease, intrauterine growth retardation, and craniofacial abnormalities. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

Synonym: pregnancy in phenylketonuria, maternal phenylketonuria, maternal phenylalanine hydroxylase deficiency disease.

Terms Related to Maternal PKU:

• Congenital Rubella Syndrome

  Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities ...

• Angelman Syndrome

  A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked ...

• RSH Syndrome

  Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, ...

• Intrauterine Growth Retardation

  The failure of a fetus to attain its expected growth potential at any gestational stage.

• Arhinencephaly

  Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most ...

• Smith Lemli Opitz Syndrome

  Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, ...

• Alobar Holoprosencephaly

  Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most ...

• Type II Smith Lemli Opitz Syndrome

  Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, ...

• Fukuhara Disease

  A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and ...

• Intrauterine Diagnosis

  Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth.