Document Detail

Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency.
MedLine Citation:
PMID:  8857803     Owner:  NLM     Status:  MEDLINE    
A case of a 13-year-old boy with protracted vomiting, ataxia, and altered mental status, ultimately diagnosed with late-onset ornithine transcarbamylase (OTC) deficiency, is presented. OTC deficiency is the most common urea cycle defect and typically is diagnosed in male infants with irritability, poor feeding, vomiting, lethargy, and often death caused by the effects of hyperammonemia. Late-onset OTC deficiency has been described in patients of all ages. The presenting symptoms in these patients vary but the most common are vomiting and lethargy. The pathophysiology, clinical features, differential diagnosis, and treatment of this disorder are discussed. Because of the risks of serious consequences, early detection and treatment of OTC deficiency and hyperammonemic episodes are mandatory. Emergency physicians caring for children and adults need to be aware of the spectrum of clinical presentations of OTC deficiency, including late-onset disease.
J H Myers; J E Shook
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The American journal of emergency medicine     Volume:  14     ISSN:  0735-6757     ISO Abbreviation:  Am J Emerg Med     Publication Date:  1996 Oct 
Date Detail:
Created Date:  1996-11-13     Completed Date:  1996-11-13     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8309942     Medline TA:  Am J Emerg Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  553-7     Citation Subset:  IM    
Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston 77030, USA.
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MeSH Terms
Age of Onset
Amino Acid Metabolism, Inborn Errors / blood,  epidemiology*
Ammonia / blood
Ataxia / etiology*
Cognition Disorders / etiology*
Diagnosis, Differential
Fatal Outcome
Ornithine Carbamoyltransferase Deficiency Disease*
Vomiting / etiology*
Reg. No./Substance:

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