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中文5-Oxoprolinase Deficiency (OPLAHD)
Alias:
Oxoprolinuria Due to Oxoprolinase Deficiency
Oplahd
Oxoprolinuria Due to 5-Oxoprolinase Deficiency
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5-氧代脯氨酸酶缺乏症，也称为因5-氧代脯氨酸酶缺乏导致的氧代脯氨酸尿症，与谷胱甘肽合成酶缺乏症和肾结石，草酸钙，1有关，症状包括腹痛、腹泻和呕吐。与5-氧代脯氨酸酶缺乏症相关的重要基因是OPLAH（5-氧代脯氨酸酶，ATP水解酶）。附属组织包括肾脏，相关表型为呕吐和腹痛
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