Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old

Eather, G., Coman, D., Lander, C. and McGill, J. (2006) Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old. Journal of Clinical Neuroscience, 13 6: 702-706. doi:10.1016/j.jocn.2005.07.014

Author Eather, G.
Coman, D.
Lander, C.
McGill, J.
Title Carbamyl phosphate synthase deficiency: Diagnosed during pregnancy in a 41-year-old
Journal name Journal of Clinical Neuroscience   Check publisher's open access policy
ISSN 0967-5868
Publication date 2006-07
Sub-type Article (original research)
DOI 10.1016/j.jocn.2005.07.014
Volume 13
Issue 6
Start page 702
End page 706
Total pages 5
Editor A. H. Kaye
Place of publication Kidlington, United Kingdom
Publisher Churchill Livingstone
Collection year 2006
Language eng
Subject 320305 Medical Biochemistry - Proteins and Peptides
730107 Inherited diseases (incl. gene therapy)
1101 Medical Biochemistry and Metabolomics
Abstract Carbamyl phosphate synthase deficiency (CPS) is a rare urea cycle defect. We present a case of a 41-year-old woman diagnosed with CPS deficiency during pregnancy. She is the oldest CPS-deficient patient, at diagnosis, reported to date and the first to be diagnosed during pregnancy. This case highlights the need for consideration of inborn errors of metabolism in adults presenting with unusual neurological and psychiatric conditions. Crown Copyright (c) 2006 Published by Elsevier Ltd. All rights reserved.
Keyword Urea Cycle
Carbamyl Phosphate Synthase Deficiency
Clinical Neurology
Synthetase-i Deficiency
Ornithine Transcarbamylase Deficiency
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
2007 Higher Education Research Data Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 11 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 13 times in Scopus Article | Citations
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Created: Wed, 15 Aug 2007, 08:29:14 EST