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中文Galactosemia Iii (GALAC3)
Alias:
Galactose Epimerase Deficiency
Gale Deficiency
Udp-Galactose-4-Epimerase Deficiency
Epimerase Deficiency Galactosemia
Uridine Diphosphate Galactose-4-Epimerase Deficiency
Galactosemia Type 3
Gale-D
Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency
Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency
Galac3
Generalized Udp-Galactose-4-Epimerase Deficiency
Erythrocyte Udp-Galactose-4-Epimerase Deficiency
Generalized Epimerase Deficiency Galactosemia
Erythrocyte Epimerase Deficiency Galactosemia
Generalized Galactose Epimerase Deficiency
Erythrocyte Galactose Epimerase Deficiency
Udpglucose 4-Epimerase Deficiency Disease
Udp-Galactose-4'-Epimerase Deficiency
Udpglucose-4-Epimerase Deficiency
Generalized Gale Deficiency
Erythrocyte Gale Deficiency
Classical Galactosemia
Galactosemia Type Iii
Generalized Gale-D
Erythrocyte Gale-D
Galactosemia 3
Galactosemias
Favorite
半乳糖血症III，又称半乳糖异构酶缺乏症，与半乳糖血症II和半乳糖血症I有关，症状包括腹泻、呕吐和黄疸。与半乳糖血症III相关的基因是GALE（UDP-半乳糖-4-异构酶），其相关通路/超级通路包括糖胺聚糖代谢和跨高尔基体网络的逆行运输。在该疾病的背景下提到了天冬氨酸和精氨酸这两种药物。相关组织包括肝脏和眼睛，相关表型包括智力障碍和恶心呕吐。
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Basic Information
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MALACARDS
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