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单词 Argininosuccinic aciduria
释义

Argininosuccinic aciduria

中文百科

精氨基琥珀酸尿症

精氨基琥珀酸尿症是一种遗传性疾病,使氨积聚在血液内。由于氨是有毒的,尤其对神经系统造成破坏,精氨基琥珀酸尿症在出生数天便会发现。

患有精氨基琥珀酸尿症的初生婴儿会昏昏欲睡及食欲不振,呼吸频率及温度调节会较差,且会癫痫或不正常的身体活动,甚至会昏迷。较严重的会有发育不良及智能障碍,逐步对肝脏的损害、皮肤损害、头发变得易断亦会出现。即时的治疗及正衡的生活(严谨的饮食及药物控制)可以阻止上述的问题。

间中地,因疾病或压力可以同样导致氨积聚在血液内,出现较轻的病征。

英语百科

Argininosuccinic aciduria 精氨基琥珀酸尿症

Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system. Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors.

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更新时间:2025/6/20 6:39:12