Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10881
Title: Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma.
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
Citation: 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.
Internal ID Number: 19737127
URI: http://ahro.austin.org.au/austinjspui/handle/1/10881
URL: http://www.ncbi.nlm.nih.gov/pubmed/19737127
Type: Journal Article
Subjects: Adult
Coma.enzymology.etiology.therapy
Female
Follow-Up Studies
Humans
Hyperammonemia.complications.enzymology
Ornithine-Oxo-Acid Transaminase.blood.deficiency
Parenteral Nutrition.methods
Pregnancy
Pregnancy Complications
Time Factors
Appears in Collections:Journal articles

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