Ornithine transcarbamylase deficiency of a male newborn with fatal outcome

被引：3

作者：

Hartung, Benno ^{[1
]}

Temme, Oliver ^{[1
]}

Neuen-Jacob, Eva ^{[2
]}

Ritz-Timme, Stefanie ^{[1
]}

Hinderhofer, Katrin ^{[3
]}

Daldrup, Thomas ^{[1
]}

机构：

[1] Univ Hosp Dusseldorf, Inst Legal Med, D-40225 Dusseldorf, Germany

[2] Univ Hosp Dusseldorf, Inst Neuropathol, D-40225 Dusseldorf, Germany

[3] Univ Heidelberg Hosp, Inst Human Genet, D-69120 Heidelberg, Germany

来源：

INTERNATIONAL JOURNAL OF LEGAL MEDICINE | 2016年 / 130卷 / 03期

关键词：

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

D O I：

10.1007/s00414-015-1311-2

中图分类号：

DF [法律]; D9 [法律]; R [医药、卫生];

学科分类号：

0301 ; 10 ;

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：3

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