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中文Galactosemia I (GALAC1)
Alias:
Galactosemia
Galt Deficiency
Classic Galactosemia
Galactose-1-Phosphate Uridyltransferase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia Type 1
Deficiency of Udpglucose-Hexose-1-Phosphate Uridylyltransferase
Classical Galactosemia
Galactosemia, Classic
Galactose Intolerance
Galactosemias
Galac1
Galput Deficiency - [galactose-4-Phosphate Uridyltransferase] Deficiency
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Deficiency of Utp-Hexose-1-Phosphate Uridylyltransferase
Deficiency of Galactose-1-Phosphate Uridylyltransferase
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Deficiency of Hexose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease
Udpglucose 4-Epimerase Deficiency Disease
Transferase Deficiency Galactosemia
Epimerase Deficiency Galactosemia
Galactokinase Deficiency Disease
Deficiency of Uridyl Transferase
Galactose Epimerase Deficiency
Galactosemia, Duarte Variant
Deficiency of Galactokinase
Classical Galactosaemia
Classic Galactosaemia
Galk Deficiency
Gale Deficiency
Galactosemia 1
Galactosaemia
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半乳糖血症I，也被称为半乳糖血症，与半乳糖血症III和半乳糖血症II有关，症状包括腹泻、呕吐和黄疸。与半乳糖血症I有关的重要基因是GALT（半乳糖-1-磷酸尿苷转移酶），其相关通路/超级通路包括代谢和糖胺聚糖代谢。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，相关表型为神经系统异常和男性不育。
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MALACARDS
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