title: First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
abstract: Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagnosed.
authors.affiliation: Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France. mo.rolland@chu-lyon.fr
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: L
authors.initials: L
authors.lastname: Cuisset
authors.forename: J
authors.initials: J
authors.lastname: Le Bozec
authors.forename: N
authors.initials: N
authors.lastname: Guffon
authors.forename: C
authors.initials: C
authors.lastname: Vianey-Saban
mesh_terms: D002824:Chorionic Villi / Q000378:metabolism; D003241:Consanguinity; D003404:Creatinine / Q000097:blood / Q000652:urine; D004247:DNA / Q000378:metabolism; D005091:Exons; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D008798:Mevalonic Acid / Q000097:blood / Q000378:metabolism / Q000652:urine*; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk; D012694:Serine / Q000378:metabolism
chemical_list: D012694:Serine; D004247:DNA; D003404:Creatinine; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid