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

[41] Δ1-pyrroline-5-carboxylate synthase deficiency:: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
Baumgartner, MR
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Valle, D
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EUROPEAN JOURNAL OF PEDIATRICS, 2005, 164 (01) : 31 - 36
[42] Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
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[43] Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
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Porta, Francesco
Caciotti, Anna
Catarzi, Serena
Cassanello, Michela
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ITALIAN JOURNAL OF PEDIATRICS, 2012, 38
[44] Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening
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Speechley, Kathy N.
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Rupar, Charles A.
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PAEDIATRICS & CHILD HEALTH, 2012, 17 (04) : 185 - 189

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