Ornithine transcarbamylase deficiency of a male newborn with fatal outcome

被引：0

作者：

Benno Hartung

Oliver Temme

Eva Neuen-Jacob

Stefanie Ritz-Timme

Katrin Hinderhofer

Thomas Daldrup

机构：

[1] University Hospital Düsseldorf,Institute of Legal Medicine

[2] University Hospital Düsseldorf,Institute of Neuropathology

[3] University Hospital Heidelberg,Institute of Human Genetics

来源：

International Journal of Legal Medicine | 2016年 / 130卷

关键词：

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

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

页码：783 / 785

页数：2

共 44 条

[1] Ornithine transcarbamylase deficiency of a male newborn with fatal outcome
Hartung, Benno
Temme, Oliver
Neuen-Jacob, Eva
Ritz-Timme, Stefanie
Hinderhofer, Katrin
Daldrup, Thomas
INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2016, 130 (03) : 783 - 785
[2] Maternal and Newborn Care for Ornithine Transcarbamylase Deficiency
Anderson, Sharon
MCN-THE AMERICAN JOURNAL OF MATERNAL-CHILD NURSING, 2025, 50 (01) : 46 - 51
[3] Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman
Thomas Perpoint
Laurent Argaud
Quentin Blanc
Dominique Robert
Intensive Care Medicine, 2001, 27 : 1962 - 1962
[4] Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman
Perpoint, T
Argaud, L
Blanc, Q
Robert, D
INTENSIVE CARE MEDICINE, 2001, 27 (12) : 1962 - 1962
[5] Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency
Bijvoet, G. P.
van der Sijs-Bos, C. J. M.
Wielders, J. P. M.
Groot, O. A.
NETHERLANDS JOURNAL OF MEDICINE, 2016, 74 (01): : 36 - 39
[6] Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency
Shigehiro Enkai
Masaki Yamamoto
Kaori Hayashi
Masaki Kobayashi
Tomohiro Sasajima
Takasuke Amizuka
Wataru Abo
European Journal of Pediatrics, 2003, 162 : 729 - 730
[7] Anesthetic management of a parturient with ornithine transcarbamylase deficiency
Mark Lewis
Indu Singh
Chitra Prasad
T. Rupar
P. Jones
Canadian Journal of Anaesthesia, 2007, 54 (Suppl 1) : 44612 - 44612
[8] Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency
Gallagher, Renata C.
Lam, Christina
Wong, Derek
Cederbaum, Stephen
Sokol, Ronald J.
JOURNAL OF PEDIATRICS, 2014, 164 (04): : 720 - U74
[9] n of 1 trial for an ornithine transcarbamylase deficiency carrier
Hackett, A.
Gillard, J.
Wilcken, B.
MOLECULAR GENETICS AND METABOLISM, 2008, 94 (02) : 157 - 161
[10] Urinary uracil in female patients with ornithine transcarbamylase deficiency
Sumi, S
Imaeda, M
Ito, T
Ueta, A
Ban, K
Ohkubo, Y
Togari, H
PEDIATRICS INTERNATIONAL, 2005, 47 (03) : 262 - 266

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