Document Detail


Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma.
MedLine Citation:
PMID:  19737127     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
David C Crosbie; Hariharan Sugumar; Marion A Simpson; Susan P Walker; Helen M Dewey; Michael C Reade
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
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:
Created Date:  2009-09-09     Completed Date:  2009-10-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100888170     Medline TA:  Crit Care Resusc     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  222-7     Citation Subset:  IM    
Affiliation:
Department of Intensive Care Medicine, Austin Hospital, Melbourne, VIC.
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MeSH Terms
Descriptor/Qualifier:
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:
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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