title: Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2.
abstract: The urinary acylcarnitine profiles of two mothers whose first children were diagnosed to have glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency, electron transfer flavoprotein (ETF) deficiency) were analysed in the second pregnancy. Large volumes of tigrylcarnitine and isovalerylcarnitine and a little glutarylcarnitine were detected. Each fetus was also diagnosed to be abnormal by enzyme activity and immunoassay of ETF protein. The acylcarnitines in the mothers' urine disappeared in 1 week after labour or artificial abortion. Acylcarnitines were never detected in the urine of controls.
authors.affiliation: Department of Pediatrics, Nagoya City University Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sakuma
authors.forename: N
authors.initials: N
authors.lastname: Sugiyama
authors.forename: T
authors.initials: T
authors.lastname: Ichiki
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: D
authors.initials: D
authors.lastname: Nohara
mesh_terms: D000028:Abortion, Induced; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000653:Amniotic Fluid / Q000737:chemistry; D002331:Carnitine / Q000031:analogs & derivatives* / Q000652:urine*; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005977:Glutarates; C069721:tigrylcarnitine; C053168:glutarylcarnitine; C020381:isobutyryl-1-carnitine; C027333:3-methylbutyrylcarnitine; C035736:glutaric acid; D002331:Carnitine