Tuesday, Oct 16, 2018
engineered enzymes for better healthcare

酪氨酸血症第一型 (TYR-I) 是由参与酪氨酸代谢的酶缺失所导致,新生儿的发病率大约为 1/80,000。酪氨酸代谢的副产物,尤其是剧毒化合物琥珀酰丙酮,会在肝脏中累积。其症状通常在生命的前几个星期开始显现,并逐渐恶化为肝脏或肾脏衰竭、神经损伤甚至死亡。药物治疗加上低蛋白质饮食是防止肝功能和肾功能损伤的有效方法。

产品信息

amino-acid-disorders-product氨基酸代谢疾病

PKU            苯酮尿症

MSUD          枫糖尿症

HCY            高胱氨酸尿症

TYR-I          酪胺酸血症第一型

 

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