成人型鸟氨酸转氨甲酰酶缺乏症是导致致命性高氨血症的罕见病因。 - Suppr

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Adult-onset ornithine transcarbamylase deficiency as a rare cause of fatal hyperammonaemia.

作者信息

Durer Seren, Durer Ceren, Hoilat Gilles Jadd

机构信息

Department of Internal Medicine, State University of New York Upstate Medical University Hospital, Syracuse, NY, USA.

出版信息

Lancet. 2021 Aug 28;398(10302):e11. doi: 10.1016/S0140-6736(21)01606-8.

DOI:10.1016/S0140-6736(21)01606-8

PMID:34454677

Abstract

摘要

相似文献

Adult-onset ornithine transcarbamylase deficiency as a rare cause of fatal hyperammonaemia.

Lancet. 2021 Aug 28;398(10302):e11. doi: 10.1016/S0140-6736(21)01606-8.

Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency.

Neth J Med. 2016 Jan;74(1):36-9.

Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman.

Intensive Care Med. 2001 Dec;27(12):1962. doi: 10.1007/s00134-001-1148-7. Epub 2001 Nov 7.

Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report.

Brain Dev. 2010 Aug;32(7):567-70. doi: 10.1016/j.braindev.2009.07.001. Epub 2009 Jul 28.

Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.

Am J Emerg Med. 2015 Mar;33(3):474.e1-3. doi: 10.1016/j.ajem.2014.08.038. Epub 2014 Aug 23.

Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.

J Gastroenterol. 2005 Jan;40(1):106-7. doi: 10.1007/s00535-004-1502-y.

The molecular basis of ornithine transcarbamylase deficiency.

Eur J Pediatr. 2000 Dec;159 Suppl 3:S196-8. doi: 10.1007/pl00014402.

Acute hyperammonemic encephalopathy secondary to ornithine transcarbamylase deficiency in a child: findings in diagnostic imaging.

Arq Neuropsiquiatr. 2019 Nov;77(11):834-835. doi: 10.1590/0004-282X20190117.

Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.

J Med Case Rep. 2015 Nov 23;9:267. doi: 10.1186/s13256-015-0741-2.

Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.

Ann Clin Biochem. 2010 May;47(Pt 3):279-81. doi: 10.1258/acb.2010.009250. Epub 2010 Apr 20.

引用本文的文献

Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.

Neurol Genet. 2024 Nov 14;10(6):e200204. doi: 10.1212/NXG.0000000000200204. eCollection 2024 Dec.

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.

Children (Basel). 2023 Aug 9;10(8):1368. doi: 10.3390/children10081368.

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery.

Cureus. 2022 Jul 8;14(7):e26667. doi: 10.7759/cureus.26667. eCollection 2022 Jul.

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Adult-onset ornithine transcarbamylase deficiency as a rare cause of fatal hyperammonaemia.

作者信息

Durer Seren, Durer Ceren, Hoilat Gilles Jadd

机构信息

Department of Internal Medicine, State University of New York Upstate Medical University Hospital, Syracuse, NY, USA.

出版信息

Lancet. 2021 Aug 28;398(10302):e11. doi: 10.1016/S0140-6736(21)01606-8.

DOI:10.1016/S0140-6736(21)01606-8

PMID:34454677

Abstract

摘要

相似文献

Adult-onset ornithine transcarbamylase deficiency as a rare cause of fatal hyperammonaemia.

Lancet. 2021 Aug 28;398(10302):e11. doi: 10.1016/S0140-6736(21)01606-8.

Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency.

Neth J Med. 2016 Jan;74(1):36-9.

Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman.

Intensive Care Med. 2001 Dec;27(12):1962. doi: 10.1007/s00134-001-1148-7. Epub 2001 Nov 7.

Parieto-occipital encephalomalacia in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report.

Brain Dev. 2010 Aug;32(7):567-70. doi: 10.1016/j.braindev.2009.07.001. Epub 2009 Jul 28.

Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.

Am J Emerg Med. 2015 Mar;33(3):474.e1-3. doi: 10.1016/j.ajem.2014.08.038. Epub 2014 Aug 23.

Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.

J Gastroenterol. 2005 Jan;40(1):106-7. doi: 10.1007/s00535-004-1502-y.

The molecular basis of ornithine transcarbamylase deficiency.

Eur J Pediatr. 2000 Dec;159 Suppl 3:S196-8. doi: 10.1007/pl00014402.

Acute hyperammonemic encephalopathy secondary to ornithine transcarbamylase deficiency in a child: findings in diagnostic imaging.

Arq Neuropsiquiatr. 2019 Nov;77(11):834-835. doi: 10.1590/0004-282X20190117.

Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.

J Med Case Rep. 2015 Nov 23;9:267. doi: 10.1186/s13256-015-0741-2.

Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.

Ann Clin Biochem. 2010 May;47(Pt 3):279-81. doi: 10.1258/acb.2010.009250. Epub 2010 Apr 20.

引用本文的文献

Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.

Neurol Genet. 2024 Nov 14;10(6):e200204. doi: 10.1212/NXG.0000000000200204. eCollection 2024 Dec.

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.

Children (Basel). 2023 Aug 9;10(8):1368. doi: 10.3390/children10081368.

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery.

Cureus. 2022 Jul 8;14(7):e26667. doi: 10.7759/cureus.26667. eCollection 2022 Jul.