| Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma. | |
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MedLine Citation:
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PMID: 19737127 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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David C Crosbie; Hariharan Sugumar; Marion A Simpson; Susan P Walker; Helen M Dewey; Michael C Reade |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Critical care and resuscitation : journal of the Australasian Academy of Critical Care Medicine Volume: 11 ISSN: 1441-2772 ISO Abbreviation: - Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-09-09 Completed Date: 2009-10-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100888170 Medline TA: Crit Care Resusc Country: Australia |
Other Details:
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Languages: eng Pagination: 222-7 Citation Subset: IM |
Affiliation:
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Department of Intensive Care Medicine, Austin Hospital, Melbourne, VIC. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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 |
| Chemical | |
Reg. No./Substance:
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EC 2.6.1.13/Ornithine-Oxo-Acid Transaminase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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