Citrin deficiency and current treatment concepts
Citrin deficiency and current treatment concepts
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DOI：
10.1016/j.ymgme.2010.02.014
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发表时间：
2010-01-01
影响因子：
3.8
通讯作者：
Kobayashi, Keiko
中科院分区：
文献类型：
--
作者：
Saheki, Takeyori;Inoue, Kanako;Kobayashi, Keiko
在本文中，我们描述了柠檬素和柠檬素缺乏症的历史方面，柠檬素缺乏症受试者的食物偏好和食物厌恶特征，与尿毒症相关的碳水化合物毒性以及柠檬素缺乏症高氨血症的常规治疗方法的问题，从而导致目前柠檬素缺乏症的治疗概念。我们还强调了柠檬酸缺乏症小鼠模型在阐明病理生理和开发基于病理生理的新疗法（如丙酮酸钠）方面的重要性。(C) 2010爱思唯尔公司版权所有。
In this paper, we describe the historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient subjects, and carbohydrate toxicity in relation to ureogenesis and issues of the conventional treatment procedures for hyperammonemia in citrin deficiency, leading to current treatment concepts for citrin deficiency. We also emphasize the importance of a citrin deficiency mouse model in elucidating the pathophysiology and developing novel therapeutics based on the pathophysiology, such as sodium pyruvate. (C) 2010 Elsevier Inc. All rights reserved.