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Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.来自杂合子携带者供体的活体肝移植后，鸟氨酸转氨甲酰酶缺乏受者出现高氨血症。
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Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.一名患有迟发性鸟氨酸转氨甲酰酶缺乏症女性的高氨血症
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Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman.一名被忽视的鸟氨酸氨甲酰基转移酶缺乏症女性因食用市售极低能量饮食引发高氨血症性脑病。
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Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.一名因新型复合杂合突变导致鸟氨酸转氨甲酰酶缺乏的儿童发生高氨血症性脑病。
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Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.成人起病型鸟氨酸转氨甲酰酶缺乏症所致急性高氨血症性脑病
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Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.酷似认知、行为和步态障碍的迟发性鸟氨酸转氨甲酰酶缺乏症：一例报告及文献综述
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1
Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.皮质类固醇抑制鸟氨酸转氨甲酰酶缺乏症中尿素循环相关基因的表达。
BMC Gastroenterol. 2022 Mar 28;22(1):144. doi: 10.1186/s12876-022-02213-0.
2
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency.评估鸟氨酸转氨甲酰酶缺乏症患者前额叶皮层的神经认知功能。
Mol Genet Metab. 2020 Mar;129(3):207-212. doi: 10.1016/j.ymgme.2019.12.014. Epub 2020 Jan 10.
3
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.尿素循环障碍的诊断和管理建议指南：第一版修订。
J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15.
4
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.鸟氨酸转氨甲酰酶缺乏症的基因型-表型相关性：突变更新
J Genet Genomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003. Epub 2015 May 19.
5
Severe hyperammonemia in late-onset ornithine transcarbamylase deficiency triggered by steroid administration.类固醇给药引发的迟发性鸟氨酸转氨甲酰酶缺乏症中的严重高氨血症。
Case Rep Neurol Med. 2015;2015:453752. doi: 10.1155/2015/453752. Epub 2015 Apr 9.
6
Effects of high doses of glucocorticoids on free amino acids, ribosomes and protein turnover in human muscle.高剂量糖皮质激素对人体肌肉中游离氨基酸、核糖体及蛋白质周转的影响。
Eur J Clin Invest. 2002 May;32(5):345-53. doi: 10.1046/j.1365-2362.2002.00993.x.
7
Alternative pathway therapy for urea cycle disorders: twenty years later.尿素循环障碍的替代途径疗法：二十年后
J Pediatr. 2001 Jan;138(1 Suppl):S46-54; discussion S54-5. doi: 10.1067/mpd.2001.111836.
8
X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.患有鸟氨酸转氨甲酰酶（OTC）缺乏症的显性女性肝脏中的X染色体失活模式。
Clin Genet. 1998 Oct;54(4):349-53. doi: 10.1034/j.1399-0004.1998.5440415.x.

一名患有迟发性鸟氨酸转氨甲酰酶缺乏症的女性发生皮质类固醇诱导的高氨血症性脑病。

Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency.

作者信息

McCormick Benjamin Joseph, Ritchie Leanna V, Porter Ivan E

机构信息

Internal Medicine, Mayo Clinic in Florida, Jacksonville, Florida, USA

Nephrology, Mayo Clinic in Florida, Jacksonville, Florida, USA.

出版信息

BMJ Case Rep. 2024 May 2;17(5):e255793. doi: 10.1136/bcr-2023-255793.

DOI:10.1136/bcr-2023-255793
PMID:38697679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11085957/
Abstract

Ornithine transcarbamylase deficiency (OTCD) is a rare, X linked disorder that can manifest in late adulthood in heterozygous females as severe hyperammonaemia following environmental stressors. We present a case of hyperammonaemic encephalopathy that was triggered by glucocorticoid administration in an adult woman with heterozygous OTCD with clinical response to haemodialysis, ammonia scavengers and a high-calorie, low-protein diet.

摘要

鸟氨酸转氨甲酰酶缺乏症（OTCD）是一种罕见的X连锁疾病，杂合子女性在成年后期可能因环境应激因素而表现为严重的高氨血症。我们报告一例高氨血症性脑病病例，该病例由一名患有杂合子OTCD的成年女性使用糖皮质激素引发，对血液透析、氨清除剂以及高热量、低蛋白饮食有临床反应。