“遗传性代谢病”的概念、定义、翻译、参考文献-科学参考

单词	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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