期刊
JOURNAL OF CLINICAL NEUROSCIENCE
卷 13, 期 6, 页码 702-706出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2005.07.014
关键词
urea cycle; carbamyl phosphate synthase deficiency; pregnancy; hyperammonaemia
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.
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