title: Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1.
abstract: Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the hepatic peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT, EC 2.6.1.44) (Danpure and Jennings, FEBS Lett., 201, 20-24, 1986). The activity of AGT has been measured in fetal livers of gestational age 14-21 weeks. Activity increases up to 17 weeks and then levels off between 17 and 21 weeks. At this time, the mean AGT activity is about 30 per cent of the mean normal postnatal level. As in adult liver, the AGT enzyme activity and the AGT immunoreactive protein are peroxisomal. Prenatal diagnosis has been performed by measuring AGT enzyme activity and immunoreactive AGT protein on liver biopsies from two fetuses at risk for primary hyperoxaluria type 1. One was unaffected and one was affected.
authors.affiliation: Division of Inherited Metabolic Diseases, Clinical Research Centre, Harrow, Middlesex, U.K.
authors.forename: C J
authors.initials: CJ
authors.lastname: Danpure
authors.forename: P R
authors.initials: PR
authors.lastname: Jennings
authors.forename: R J
authors.initials: RJ
authors.lastname: Penketh
authors.forename: P J
authors.initials: PJ
authors.lastname: Wise
authors.forename: P J
authors.initials: PJ
authors.lastname: Cooper
authors.forename: C H
authors.initials: CH
authors.lastname: Rodeck
mesh_terms: D000410:Alanine Transaminase / Q000032:analysis* / Q000172:deficiency; D001706:Biopsy; D005260:Female; D005333:Fetus / Q000201:enzymology*; D006801:Humans; D006959:Hyperoxaluria / Q000175:diagnosis*; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000201:enzymology; D008099:Liver / Q000201:enzymology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000637:Transaminases
chemical_list: D000637:Transaminases; D000410:Alanine Transaminase; C019635:Alanine-glyoxylate transaminase