title: Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies.
abstract: In this study we have measured the concentration of 24 amino acids and total homocysteine in amniotic fluids obtained between the tenth and 32nd week of gestation from pregnancies not at risk for metabolic diseases. These results are used as reference values to which are compared values obtained from pregnancies at risk for citrullinaemia, argininosuccinic aciduria, HHH (hyperornithinaemia, hyperammonaemia and homocitrullinaemia) syndrome, cobalamin metabolism disorders (CblC or CblD), and sulphite oxidase deficiency. We discuss the helpfulness of amino acid analysis in amniotic fluid for prenatal diagnosis of aminoacidopathies.
authors.affiliation: Laboratoire de Biochimie Médicale B, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux-Vekemans
authors.forename: J F
authors.initials: JF
authors.lastname: Oury
authors.forename: J
authors.initials: J
authors.lastname: Aupetit
authors.forename: J
authors.initials: J
authors.lastname: Bardet
authors.forename: M
authors.initials: M
authors.lastname: Gasquet
authors.forename: E
authors.initials: E
authors.lastname: Merhand
authors.forename: P
authors.initials: P
authors.lastname: Parvy
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000603:Amino Acids, Sulfur / Q000032:analysis* / Q000378:metabolism; D000653:Amniotic Fluid / Q000737:chemistry*; D001125:Argininosuccinic Acid / Q000032:analysis* / Q000378:metabolism; D002852:Chromatography, Ion Exchange; D002956:Citrulline / Q000032:analysis* / Q000378:metabolism; D005260:Female; D005865:Gestational Age; D006801:Humans; D009952:Ornithine / Q000032:analysis* / Q000378:metabolism; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012016:Reference Values; D014805:Vitamin B 12 / Q000378:metabolism
chemical_list: D000603:Amino Acids, Sulfur; D001125:Argininosuccinic Acid; D002956:Citrulline; D009952:Ornithine; D050862:Oxidoreductases Acting on Sulfur Group Donors; D014805:Vitamin B 12