Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylast deficiency

Panlaqui, Ogee Mer, Tran, Khoa, Johns, Amanda, McGill, Jim and White, Hayden (2008) Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylast deficiency. Intensive Care Medicine, 34 10: 1922-1924. doi:10.1007/s00134-008-1217-2

Author Panlaqui, Ogee Mer
Tran, Khoa
Johns, Amanda
McGill, Jim
White, Hayden
Title Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylast deficiency
Journal name Intensive Care Medicine   Check publisher's open access policy
ISSN 0342-4642
Publication date 2008-10-01
Sub-type Article (original research)
DOI 10.1007/s00134-008-1217-2
Open Access Status Not yet assessed
Volume 34
Issue 10
Start page 1922
End page 1924
Total pages 3
Place of publication Berlin, Germany
Publisher Springer
Language eng
Subject CX
920299 Health and Support Services not elsewhere classified
110310 Intensive Care
Abstract Objectives To report the clinical manifestations of acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency (OTCD). Design Case report. Setting Intensive care unit of a tertiary medical centre. Patient A 48-year-old Caucasian male body builder who developed acute loss of consciousness after a febrile illness. Interventions The patient was immediately started on hemodia-filtration, protein elimination and ammonia scavenging medications. Measurements and results Serum ammonium was elevated and plasma and urine amino acids had a pattern indicative of a urea cycle defect. DNA studies revealed a mutation of the urea cycle enzyme, ornithine transcarbamylase. The encephalopathy resolved and the patient slowly recovered though with some cognitive impairment. Conclusions Adult presentation of OTCD is rare and the mortality and morbidity rates are high. However, survival is possible with rapid correction of hyperammonemia. As the clinical manifestations are non-specific, a high index of suspicion is necessary for the correct diagnosis and management.
Keyword Ornithine transcarbamylase deficiency
Hyperammonemic encephalopathy
Q-Index Code CX
Q-Index Status Provisional Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 15 times in Thomson Reuters Web of Science Article | Citations
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Created: Sat, 22 Aug 2009, 01:52:59 EST by Denise Wilson on behalf of Faculty Of Health Sciences