title: Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient.
abstract: Ornithine transcarbamylase (OTC) deficiency is an X-linked inherited disease and the most common inborn error in urea synthesis in humans. In adult heterozygous patients, partial OTC deficiency can be responsible for life-threatening hyperammonemic coma, with a frequency of 15 %. We report the clinical course of a heterozygous female patient and discuss the therapeutic options, including hemodialysis and continuous arteriovenous hemofiltration for reduction of ammonia levels as well as liver transplantation as a definitive therapy.
authors.affiliation: Department of Gastroenterology and Hepatology, Medizinische Hochschule Hannover, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Heringlake
authors.forename: K
authors.initials: K
authors.lastname: Böker
authors.forename: M
authors.initials: M
authors.lastname: Manns
mesh_terms: D000328:Adult; D000641:Ammonia / Q000097:blood*; D017809:Fatal Outcome; D005260:Female; D006440:Hemofiltration; D006579:Heterozygote; D006801:Humans; D016031:Liver Transplantation; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000628:therapy; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010375:Pedigree; D006435:Renal Dialysis; D014508:Urea / Q000378:metabolism*
chemical_list: D000641:Ammonia; D014508:Urea; D009954:Ornithine Carbamoyltransferase