title: Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
abstract: We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, Manchester, UK.
authors.forename: M A
authors.initials: MA
authors.lastname: Cleary
authors.forename: L
authors.initials: L
authors.lastname: Dorland
authors.forename: T J
authors.initials: TJ
authors.lastname: de Koning
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: R
authors.initials: R
authors.lastname: Mandell
authors.forename: V E
authors.initials: VE
authors.lastname: Shih
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
authors.forename: G T N
authors.initials: GT
authors.lastname: Besley
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000641:Ammonia / Q000097:blood; D001120:Arginine / Q000097:blood; D002956:Citrulline / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005973:Glutamine / Q000097:blood; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D009952:Ornithine / Q000097:blood; D009953:Ornithine-Oxo-Acid Transaminase / Q000172:deficiency*; D009963:Orotic Acid / Q000097:blood
chemical_list: D005973:Glutamine; D002956:Citrulline; D009963:Orotic Acid; D000641:Ammonia; D001120:Arginine; D009952:Ornithine; D009953:Ornithine-Oxo-Acid Transaminase