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中文Saccharopinuria
Alias:
Saccharopine Dehydrogenase Deficiency
Hyperlysinemia Type Ii
Alpha-Aminoadipic Semialdehyde Synthase Deficiency
Hyperlysinemia, Type Ii
Hyperlysinemia, Type I
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糖精尿症，又名糖精脱氢酶缺乏症，与高赖氨酸血症、I型和经典瓜氨酸血症有关，症状包括癫痫发作。与糖精尿症相关的重要基因是AASS（氨基己二酸半醛合酶）。相关组织包括肝脏，相关表型为循环酶水平异常和高赖氨酸血症。
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MALACARDS
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MGI
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