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遗传性代谢病
释义
遗传性代谢病
Encyclopedia
医学
遗传性代谢病
释
inherited metabolic disease,IMD
遗传性代谢病
由于遗传缺陷,参与代谢调控的酶、受体、载体等蛋白功能缺失,体内生化物质在合成、代谢、转运和储存等方面出现障碍引起各种代谢紊乱,产生一系列临床症状的疾病。又称先天代谢缺陷(inborn errors of metabolism, IEM)。
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