title: Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
abstract: Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency is a group of rare and severe diseases. Prenatal diagnosis of dihydropteridine reductase and pyruvoyltetrahydropterin synthetase deficiencies can be achieved by enzyme assay in cultured fluid cells and/or fetal blood. In contrast, prenatal diagnosis of GTP cyclohydrolase deficiency can only rely on the measurement of pterin metabolites in the amniotic fluid. A pregnancy at risk for GTP cyclohydrolase deficiency was investigated. HPLC analysis of amniotic fluid pterins revealed neopterin and biopterin concentrations below the lowest limit of normal age-matched gestations. The mother refused abortion. The early follow-up of the child confirmed the diagnosis of GTP cyclohydrolase deficiency (hyperphenylalaninaemia, abnormal profile of urinary pterins and neurological deterioration).
authors.affiliation: Laboratoire de Biochimie, Faculté Libre de Médecine, Lille, France.
authors.forename: J L
authors.initials: JL
authors.lastname: Dhondt
authors.forename: P
authors.initials: P
authors.lastname: Tilmont
authors.forename: J
authors.initials: J
authors.lastname: Ringel
authors.forename: J P
authors.initials: JP
authors.lastname: Farriaux
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000737:chemistry*; D005260:Female; D005500:Follow-Up Studies; D006136:GTP Cyclohydrolase / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010649:Phenylalanine / Q000097:blood; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011622:Pterins / Q000032:analysis* / Q000652:urine
chemical_list: D011622:Pterins; D010649:Phenylalanine; D006136:GTP Cyclohydrolase