title: Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
abstract: A European survey of prenatal diagnosis cases involving urea cycle diseases was performed. Citrullinemia was the most frequently investigated disease (108 cases). Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarbamylase defect) is presently diagnosed using molecular biology methods.
authors.affiliation: Laboratory of Biochemistry, URA CNRS 1335, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Kamoun
authors.forename: A H
authors.initials: AH
authors.lastname: Fensom
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: J P
authors.initials: JP
authors.lastname: Colombo
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Bird
authors.forename: S
authors.initials: S
authors.lastname: Canini
authors.forename: J G
authors.initials: JG
authors.lastname: Huijmans
authors.forename: B
authors.initials: B
authors.lastname: Chadefaux-Vekemans
mesh_terms: D001125:Argininosuccinic Acid / Q000378:metabolism; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011296:Prenatal Diagnosis; D014508:Urea / Q000378:metabolism*
chemical_list: D001125:Argininosuccinic Acid; D014508:Urea