Case report: An adult-onset type II citrin deficiency patient in the emergency department

机译：病例报告：急诊科一名成人发作的II型柑桔缺乏症患者

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Mutations in the solute carrier family 25 (SLC25A13) gene may result in neonatal intrahepatic cholestasis caused by citrin deficiency and/or adult-onset type II citrullinemia. These conditions are inherited in an autosomal recessive manner. The current case report describes a 43-year-old man who presented with sudden delirium and upper limb weakness. Upon admission, the patient was fully conscious and alert but later lost consciousness subsequent to a sudden convulsive seizure. Hyperammonemia was detected and analysis of the SLC25A13 gene identified an 851del4 mutation. Thus, the possibility of genetic disease should be considered as a potential cause of the symptoms of patients with altered states of consciousness, such as delirium and loss of consciousness, in cases where the cause of the disturbance is unknown.

机译：溶质载体家族25（SLC25A13）基因中的突变可能会导致由柠檬酸缺乏和/或成年发作的II型瓜氨酸血症引起的新生儿肝内胆汁淤积。这些状况以常染色体隐性方式遗传。当前的病例报告描述了一名43岁的男性，他突然出现ir妄和上肢无力。入院时，患者完全清醒且机敏，但随后突然抽搐发作而失去知觉。检测到高氨血症，对SLC25A13基因的分析鉴定出851del4突变。因此，在不明原因的情况下，应将遗传疾病的可能性视为意识状态改变（例如patients妄和意识丧失）患者症状的潜在原因。

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期刊名称 Experimental and Therapeutic Medicine
作者
LUJIA TANG; LIANG CHEN; HAIRONG WANG; LIHUA DAI; SHUMING PAN;
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作者单位

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年(卷),期 -1(12),1
年度 -1
页码 410–414
总页数 5
原文格式 PDF
正文语种
中图分类医学史;
关键词
adult-onset type II citrullinemia CTLN2 citrin deficiency;

机译：成人发作的II型瓜氨酸血症;CTLN2;柠檬酸缺乏症;

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专利

1. Case report: An adult-onset type II citrin deficiency patient in the emergency department [J] . Tang Lujia, Chen Liang, Wang Hairong, Experimental and therapeutic medicine . 2016,第1期

机译：病例报告：急诊科的一名成人发作的II型柑桔缺乏症患者
2. Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin. [J] . Iijima M, Jalil A, Begum L, Advances in enzyme regulation . 2001,第0期

机译：由缺乏一种线粒体溶质载体蛋白citrin引起的成人II型瓜氨酸血红蛋白的发病机理：citrin的组织和亚细胞定位。
3. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. [J] . Saheki T, Kobayashi K, Iijima M, Molecular genetics and metabolism . 2004,第Suppla1期

机译：成人发作的II型瓜氨酸血红素和特发性新生儿肝炎由柠檬素缺乏引起：谷氨酸谷氨酸载体参与尿素合成并维持尿素循环。
4. Predicting Emergency Department Visits Based on Cancer Patient Types [C] . Mahsa Rouzbahman, Lu Wang, Mark Chignell, IEEE International Conference on Bioinformatics and Biomedicine . 2019

机译：根据癌症患者类型预测急诊就诊
5. Cloning and characterization of citrin: The aspartate/glutamate carrier mutated in adult-onset type II citrullinemia. [D] . Sinasac, David Steven. 2003

机译：柠檬酸的克隆和特征：天冬氨酸/谷氨酸携带者在成年发作的II型瓜氨酸血症中突变。
6. Cut‐off values of B‐type natriuretic peptide for the diagnosis of congestive heart failure in patients with dyspnoea visiting emergency departments: a study on Korean patients visiting emergency departments [O] . Sunghyuk Choi, Doyoung Park, Sungwoo Lee, 2007

机译：B型利尿钠肽的临界值对呼吸困难就诊患者的充血性心力衰竭的诊断：一项关于韩国患者就诊急诊的研究
7. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) [O] . T. Saheki, K. Kobayashi 2002

机译：线粒体天冬氨酸谷氨酸载体（Citrin）缺乏作为成人发作II型柑橘蛋白血症（CTLN2）和特发性新生儿肝炎（Niccd）的原因

Case report: An adult-onset type II citrin deficiency patient in the emergency department

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