Literature DB >> 26753873

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.

Benno Hartung1, Oliver Temme2, Eva Neuen-Jacob3, Stefanie Ritz-Timme2, Katrin Hinderhofer4, Thomas Daldrup2.   

Abstract

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.

Entities:  

Keywords:  Hyperammonaemia; OTCD; Ornithine carbamoyltransferase deficiency; Orotic acid; Postmortem chemistry; SIDS; Sudden infant death syndrome

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Substances：

Year:  2016        PMID： 26753873     DOI： 10.1007/s00414-015-1311-2

Source DB:  PubMed          Journal:  Int J Legal Med        ISSN： 0937-9827            Impact factor:   2.686


  8 in total

Review 1.  Ornithine carbamoyltransferase deficiency.

Authors:  J E Wraith
Journal:  Arch Dis Child       Date:  2001-01       Impact factor: 3.791

2.  Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.

Authors:  Toshiki Takenouchi; Yuki Tsukahara; Reiko Horikawa; Kenjiro Kosaki; Rika Kosaki
Journal:  Am J Med Genet A       Date:  2014-08-13       Impact factor: 2.802

3.  Hereditary hyperammonaemia.

Authors:  C J Bruton; J A Corsellis; A Russell
Journal:  Brain       Date:  1970       Impact factor: 13.501

Review 4.  Postmortem chemistry update. Emphasis on forensic application.

Authors:  J I Coe
Journal:  Am J Forensic Med Pathol       Date:  1993-06       Impact factor: 0.921

Review 5.  Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Authors:  Mendel Tuchman; Naser Jaleel; Hiroki Morizono; Lisa Sheehy; Michael G Lynch
Journal:  Hum Mutat       Date:  2002-02       Impact factor: 4.878

6.  Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Authors:  M Grompe; C T Caskey; R G Fenwick
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

7.  Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.

Authors:  N E Maestri; D Clissold; S W Brusilow
Journal:  J Pediatr       Date:  1999-03       Impact factor: 4.406

8.  High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

Authors:  Oleg A Shchelochkov; Fang-Yuan Li; Michael T Geraghty; Renata C Gallagher; Johan L Van Hove; Uta Lichter-Konecki; Paul M Fernhoff; Sara Copeland; Tyler Reimschisel; Stephen Cederbaum; Brendan Lee; A Craig Chinault; Lee-Jun Wong
Journal:  Mol Genet Metab       Date:  2009-01-12       Impact factor: 4.797
  8 in total

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