title: Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
abstract: Ornithine transcarbamylase deficiency (OTCD) is the most common malfunction of ureagenesis. The case of a male newborn who died at the age of 2 days for clinically unclear reasons is presented. The post-mortem routine and esoteric testing methods that finally led to the diagnosis of a fatal case of OTCD are outlined here.
authors.affiliation: Institute of Legal Medicine, University Hospital Düsseldorf, 40225, Düsseldorf, Germany. benno.hartung@med.uni-duesseldorf.de.
authors.forename: Benno
authors.initials: B
authors.lastname: Hartung
authors.affiliation: Institute of Legal Medicine, University Hospital Düsseldorf, 40225, Düsseldorf, Germany.
authors.forename: Oliver
authors.initials: O
authors.lastname: Temme
authors.affiliation: Institute of Neuropathology, University Hospital Düsseldorf, 40225, Düsseldorf, Germany.
authors.forename: Eva
authors.initials: E
authors.lastname: Neuen-Jacob
authors.affiliation: Institute of Legal Medicine, University Hospital Düsseldorf, 40225, Düsseldorf, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Ritz-Timme
authors.affiliation: Institute of Human Genetics, University Hospital Heidelberg, 69120, Heidelberg, Germany.
authors.forename: Katrin
authors.initials: K
authors.lastname: Hinderhofer
authors.affiliation: Institute of Legal Medicine, University Hospital Düsseldorf, 40225, Düsseldorf, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Daldrup
mesh_terms: D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000235:genetics; D009963:Orotic Acid / Q000032:analysis
chemical_list: D009963:Orotic Acid; D009954:Ornithine Carbamoyltransferase
keywords: Hyperammonaemia; OTCD; Ornithine carbamoyltransferase deficiency; Orotic acid; Postmortem chemistry; SIDS; Sudden infant death syndrome