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Title: Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma.
Austin Authors: Crosbie, David C;Sugumar, Hariharan;Simpson, Marion A ;Walker, Susan P;Dewey, Helen M;Reade, Michael C
Affiliation: Department of Intensive Care Medicine, Austin Hospital, Melbourne, VIC.
Issue Date: 1-Sep-2009
Publication information: Critical Care and Resuscitation; 11(3): 222-7
Abstract: Hyperammonaemia due to ornithine transcarbamylase (OTC) deficiency is a well-described cause of coma in neonates. Rarely, adults with this disorder may also present with coma. Here we describe the first reported case, to our knowledge, in a pregnant woman. She was successfully treated with metabolic therapy and, contrary to usual paediatric practice, renal replacement therapy. We review the biochemistry of OTC deficiency and other urea cycle disorders, and discuss the physiological rationale and evidence base for treatment of this condition. We highlight the need to consider hyperammonaemia in the differential diagnosis of coma.
Gov't Doc #: 19737127
Journal: Critical Care and Resuscitation
Type: Journal Article
Subjects: Adult
Follow-Up Studies
Ornithine-Oxo-Acid Transaminase.blood.deficiency
Parenteral Nutrition.methods
Pregnancy Complications
Time Factors
Appears in Collections:Journal articles

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