Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/10881
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dc.contributor.authorCrosbie, David Cen
dc.contributor.authorSugumar, Hariharanen
dc.contributor.authorSimpson, Marion Aen
dc.contributor.authorWalker, Susan Pen
dc.contributor.authorDewey, Helen Men
dc.contributor.authorReade, Michael Cen
dc.date.accessioned2015-05-16T00:27:31Z
dc.date.available2015-05-16T00:27:31Z
dc.date.issued2009-09-01en
dc.identifier.citationCritical Care and Resuscitation; 11(3): 222-7en
dc.identifier.govdoc19737127en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/10881en
dc.description.abstractHyperammonaemia 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.en
dc.language.isoenen
dc.subject.otherAdulten
dc.subject.otherComa.enzymology.etiology.therapyen
dc.subject.otherFemaleen
dc.subject.otherFollow-Up Studiesen
dc.subject.otherHumansen
dc.subject.otherHyperammonemia.complications.enzymologyen
dc.subject.otherOrnithine-Oxo-Acid Transaminase.blood.deficiencyen
dc.subject.otherParenteral Nutrition.methodsen
dc.subject.otherPregnancyen
dc.subject.otherPregnancy Complicationsen
dc.subject.otherTime Factorsen
dc.titleLate-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma.en
dc.typeJournal Articleen
dc.identifier.journaltitleCritical Care and Resuscitationen
dc.identifier.affiliationDepartment of Intensive Care Medicine, Austin Hospital, Melbourne, VIC.en
dc.description.pages222-7en
dc.relation.urlhttps://pubmed.ncbi.nlm.nih.gov/19737127en
dc.type.austinJournal Articleen
local.name.researcherSimpson, Marion A
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
crisitem.author.deptNeurology-
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