Ornithine transcarbamylase deficiency of a male newborn with fatal outcome
Ornithine transcarbamylase deficiency (OTCD) is the most common malfunction of ureagenesis. The case of a male newborn who died at the age of 2 days for clinically unclear reasons is presented. The post-mortem routine and esoteric testing methods that finally led to the diagnosis of a fatal case of...
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| Main Authors: | , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
11 January 2016
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| In: |
International journal of legal medicine
Year: 2016, Volume: 130, Issue: 3, Pages: 783-785 |
| ISSN: | 1437-1596 |
| DOI: | 10.1007/s00414-015-1311-2 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1007/s00414-015-1311-2
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| Author Notes: | Benno Hartung, Oliver Temme, Eva Neuen-Jacob, Stefanie Ritz-Timme, Katrin Hinderhofer, Thomas Daldrup |
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| 520 | |a Ornithine transcarbamylase deficiency (OTCD) is the most common malfunction of ureagenesis. The case of a male newborn who died at the age of 2 days for clinically unclear reasons is presented. The post-mortem routine and esoteric testing methods that finally led to the diagnosis of a fatal case of OTCD are outlined here. | ||
| 650 | 4 | |a Hyperammonaemia | |
| 650 | 4 | |a Ornithine carbamoyltransferase deficiency | |
| 650 | 4 | |a Orotic acid | |
| 650 | 4 | |a OTCD | |
| 650 | 4 | |a Postmortem chemistry | |
| 650 | 4 | |a SIDS | |
| 650 | 4 | |a Sudden infant death syndrome | |
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