title: Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?
abstract: The prenatal diagnosis of two subsequent pregnancies of the mother of a patient homozygous for a mutation in the L-2-hydroxyglutarate dehydrogenase gene is described. In the first pregnancy, measurement of L-2-hydroxyglutaric acid in amniotic fluid revealed an affected fetus. This pregnancy was terminated. In the prenatal diagnosis of the second pregnancy, mutational analysis was also included and proved to be of pivotal importance. Despite mildly increased levels of L-2-hydroxyglutaric acid in the amniotic fluid, the fetus was heterozygous for this mutation thus excluding L-2-HGA.
authors.affiliation: 1st Department of Pediatrics, Metabolic Laboratory, Hippocration General Hospital, Aristotle University of Thessaloniki, Thessaloniki 546 42, Greece. persefon@med.auth.gr
authors.forename: P
authors.initials: P
authors.lastname: Augoustides-Savvopoulou
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: J
authors.initials: J
authors.lastname: Dotis
authors.forename: E
authors.initials: E
authors.lastname: Roilides
authors.forename: M
authors.initials: M
authors.lastname: Leontsini
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: C
authors.initials: C
authors.lastname: Panteliadis
mesh_terms: D000028:Abortion, Induced; D000649:Amniocentesis; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate