Skip to main content
SpringerLink
Log in

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome

  • Case Report
  • Published:
International Journal of Legal Medicine Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Wraith JE (2011) Ornithine carbamoyltransferase deficiency. Arch Dis Child 84:84–88

    Article  Google Scholar 

  2. Takenouchi T, Tsukahara Y, Horikawa R, Kosaki K, Kosaki R (2014) Four-decade-old mummified umbilical tissue making retrospective diagnosis of ornithine carbamoyltransferase deficiency. Am J Med Genet A 164A:2679–2681

    Article  Google Scholar 

  3. Mason JK (1993) Postmortem chemistry update. Am J Forensic Med Pathol 14:91–117

    Article  Google Scholar 

  4. Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG (2002) Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 19:93–107

    Article  CAS  Google Scholar 

  5. Bruton CJ, Corsellis JAN, Russell A (1970) Hereditary hyperammonaemia. Brain 93:423–434

    Article  CAS  Google Scholar 

  6. Grompe M, Caskey CT, Fenwick RG (1991) Improved molecular diagnostics for ornithine transcarbamylase deficiency. Am J Hum Genet 48:212–222

    CAS  PubMed  PubMed Central  Google Scholar 

  7. Shchelochkov OA, Li F-Y, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong L-J (2009) High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab 96:97–105

  8. Maestri NE, Clissold D, Brusilow SW (1999) Neonatal onset ornithine transcarbamoylase deficiency: a retrospective analysis. J Pediatr 134:268–272

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Legal Medicine, University Hospital Düsseldorf, 40225, Düsseldorf, Germany

    Benno Hartung, Oliver Temme, Stefanie Ritz-Timme & Thomas Daldrup

  2. Institute of Neuropathology, University Hospital Düsseldorf, 40225, Düsseldorf, Germany

    Eva Neuen-Jacob

  3. Institute of Human Genetics, University Hospital Heidelberg, 69120, Heidelberg, Germany

    Katrin Hinderhofer

Authors
  1. Benno Hartung
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Oliver Temme
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Eva Neuen-Jacob
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Stefanie Ritz-Timme
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Katrin Hinderhofer
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Thomas Daldrup
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Benno Hartung.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Hartung, B., Temme, O., Neuen-Jacob, E. et al. Ornithine transcarbamylase deficiency of a male newborn with fatal outcome. Int J Legal Med 130, 783–785 (2016). https://doi.org/10.1007/s00414-015-1311-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00414-015-1311-2

Keywords

Search

Navigation