title: Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.
abstract: We attempted to evaluate the role of maternal hyperphenylalaninaemia (HPA) as an isolated cause of mental retardation and microcephaly in children. This transversal study observed the plasma phenylalanine from mothers of 161 children with mental retardation and/or microcephaly of unknown origin. In this sample, we found two women with previously undiagnosed HPA, a frequency (2/161) higher than expected for our general population (1:12 500) (p < 0.001). We concluded that the plasma phenylalanine levels should be determined during preconceptional evaluation of every woman of reproductive age that already has had a child affected either by mental retardation or microcephaly of unknown cause. It is particularly significant where women currently having their pregnancies have not been screened for phenylketonuria as newborns, as happens in most developing countries.
authors.affiliation: Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: L B
authors.initials: LB
authors.lastname: Jardim
authors.forename: R
authors.initials: R
authors.lastname: Palma-Dias
authors.forename: L C
authors.initials: LC
authors.lastname: Silva
authors.forename: P
authors.initials: P
authors.lastname: Ashton-Prolla
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D007360:Intelligence; D008431:Maternal-Fetal Exchange; D008831:Microcephaly / Q000209:etiology*; D008875:Middle Aged; D010375:Pedigree; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000097:blood; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic
chemical_list: D010649:Phenylalanine