title: [Importance of early diagnosis of phenylketonuria in women and control of phenylalanine levels during pregnancy].
abstract: The phenylalanine hydroxylase (PAH) in the liver hydroxylates phenylalanine from the diet. Fetuses depend for the hydroxylation of phenylalanine the maternal metabolism , fetal maturity does not come until week 26. Though the women with PAH deficiency (phenylketonuria, PKU) not adequately hydroxylate phenylalanine diet so their blood levels are high. Fenilalaninemia levels are considered neurotoxic teratogenic and above 360 umol/L (N < 120). Pregnant women should strictly follow PKU dietary treatment and/or drug to maintain levels of fenilalaninemia < 180 umol/L and avoid the teratogenic complications in the fetus (Hyperphenylalaninaemias Maternal Fetal Syndrome), as the case presented. We recommend discarding Phenylketonuria in women who have not been done a neonatal screening and/or have abortions, children with microcephaly, cardiac or renal malformations.
authors.affiliation: Unidad de Enfermedades Metabólicas/Enfermedades Raras, Hospital Universitario Ramón y Cajal, Madrid, España. arri68@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Arrieta Blanco
authors.forename: A
authors.initials: A
authors.lastname: Bélanger Quintana
authors.forename: C
authors.initials: C
authors.lastname: Vázquez Martínez
authors.forename: M
authors.initials: M
authors.lastname: Martínez Pardo
mesh_terms: D000328:Adult; D001708:Biopterins / Q000031:analogs & derivatives / Q000097:blood; D000013:Congenital Abnormalities / Q000209:etiology / Q000517:prevention & control; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010649:Phenylalanine / Q000378:metabolism*; D010651:Phenylalanine Hydroxylase / Q000378:metabolism; D010661:Phenylketonurias / Q000175:diagnosis* / Q000178:diet therapy*; D011247:Pregnancy; D011256:Pregnancy Outcome
chemical_list: D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin