Document Detail


Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications.
MedLine Citation:
PMID:  23283608     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error in the metabolism of the urea cycle with an incidence of 1 in 14 000 live births. Pregnancy can trigger potentially fatal hyperammonemic crises. We report a successful pregnancy in a 29-year-old primiparous patient with a known diagnosis of OTC deficiency since infancy. Hyperammonemic complications were avoided due to careful multidisciplinary management which included a detailed antenatal, intrapartum and postnatal plan. Management principles include avoidance of triggers, a low-protein diet and medications which promote the removal of nitrogen by alternative pathways. Triggers include metabolic stress such as febrile illness, particularly gastroenteritis, fasting and any protein loading. In our case the patient, in addition to a restricted protein intake, was prescribed sodium benzoate 4 g four times a day, sodium phenylbutyrate 2 g four times a day and arginine 500 mg four times a day to aid excretion of ammonia and reduce flux through the urea cycle.
Authors:
Stephanie Lamb; Christina Yi Ling Aye; Elaine Murphy; Lucy Mackillop
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Publication Detail:
Type:  Journal Article     Date:  2013-01-02
Journal Detail:
Title:  BMJ case reports     Volume:  2013     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2013  
Date Detail:
Created Date:  2013-01-03     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Oxford, UK.
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