Galactosemia Iii (GALAC3)

半乳糖血症3型(来自ICD-11)

别称:

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

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

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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