title: Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
abstract: Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation. Both chorionic villus and amniotic fluid samples were used. The presence of high levels of methylmalonic acid and propionylcarnitine determined by gas chromatography/mass spectrometry and LC/MS/MS analysis, respectively, and the identification of the p.Gly215Ser at a homozygous level in foetal DNA allowed a certain, rapid and early diagnosis. To our knowledge, this is the first mut MMA prenatal diagnosis carried out by genetic and biochemical approach.
authors.affiliation: Metabolic and Muscular Unit, Department of Paediatrics, University of Florence, Meyer Children's Hospital, Florence, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Cavicchi
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
authors.forename: S
authors.initials: S
authors.lastname: Funghini
authors.forename: G
authors.initials: G
authors.lastname: la Marca
authors.forename: S
authors.initials: S
authors.lastname: Malvagia
authors.forename: F
authors.initials: F
authors.lastname: Ciani
authors.forename: G M
authors.initials: GM
authors.lastname: Poggi
authors.forename: E
authors.initials: E
authors.lastname: Pasquini
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: A
authors.initials: A
authors.lastname: Morrone
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005865:Gestational Age; D006801:Humans; D008764:Methylmalonic Acid / Q000652:urine*; D008969:Molecular Sequence Data; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D008764:Methylmalonic Acid