尿素循环障碍-更新。,Journal of Human Genetics

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尿素循环障碍-更新。
Journal of Human Genetics ( IF 2.6 ) Pub Date : 2019-05-20 , DOI: 10.1038/s10038-019-0614-4
Shirou Matsumoto ₁ , Johannes Häberle ₂ , Jun Kido ₁ , Hiroshi Mitsubuchi ₁ , Fumio Endo ₃ , Kimitoshi Nakamura ₁

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尿素循环是用于处置过量氮的代谢途径，过量氮主要以氨的形式出现。氮对于生长和维持生命至关重要，但是过量的氨会危及生命。尿素循环系统疾病（UCD）包括在新生儿时期（约占病例的50％）或以后出现的高氨血症疾病。尿素循环的酶或转运蛋白的先天性缺陷导致该疾病。该循环利用了五种酶，其中线粒体基质中存在氨基甲酰基磷酸合成酶1和鸟氨酸转氨甲酰酶中的两种，而其他（精氨酸琥珀酸合成酶，精氨酸琥珀酸裂合酶和精氨酸酶1）存在于细胞质中。另外，N-乙酰谷氨酸合酶和至少两种转运蛋白对于尿素循环功能是必不可少的。发作的严重程度和年龄取决于残留的酶或转运蛋白功能，并与各自的基因突变有关。治疗的策略是防止高氨暴露于大脑的不可逆毒性。由于该病的罕见性，其发病机理和自然病程知之甚少，因此非常需要国际注册系统和新颖的临床试验。在这里，我们将对UCD的发病机理，诊断方法，包括遗传学和治疗方法进行综述。因此，非常需要国际注册系统和新颖的临床试验。在这里，我们将对UCD的发病机理，诊断方法，包括遗传学和治疗方法进行综述。因此，非常需要国际注册系统和新颖的临床试验。在这里，我们将对UCD的发病机理，诊断方法（包括遗传学和治疗方法）的当前概念进行回顾。

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Urea cycle disorders-update.

The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with hyperammonemia that arise in either the neonatal period (about 50% of cases) or later. Congenital defects of the enzymes or transporters of the urea cycle cause the disease. This cycle utilizes five enzymes, two of which, carbamoylphosphate synthetase 1 and ornithine transcarbamylase are present in the mitochondrial matrix, whereas the others (argininosuccinate synthetase, argininosuccinate lyase and arginase 1) are present in the cytoplasm. In addition, N-acetylglutamate synthase and at least two transporter proteins are essential to urea cycle function. Severity and age of onset depend on residual enzyme or transporter function and are related to the respective gene mutations. The strategy for therapy is to prevent the irreversible toxicity of high-ammonia exposure to the brain. The pathogenesis and natural course are poorly understood because of the rarity of the disease, so an international registry system and novel clinical trials are much needed. We review here the current concepts of the pathogenesis, diagnostics, including genetics and treatment of UCDs.

更新日期：2019-05-20

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