Galactosemia I (GALAC1)

半乳糖血症1型(来自ICD-11)

别称:

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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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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