人体内,半乳糖在半乳糖激酶(galactokinase, GALK)、半乳糖-1-磷酸尿苷酰转移酶(galactose-1-phosphate uridyltransferase, GALT)以及尿苷二磷酸-半乳糖-4′-差向异构酶(uridinediphosphate galactose-4-epimerase, GALE)先后作用下生成1-磷酸葡萄糖进入糖酵解途径为机体提供能量。其中任何一个酶缺陷均可引起半乳糖代谢...
半乳糖代谢途径中有3种主要的酶,包括半乳糖激酶( galactokinase,GALK)、半乳糖一l一磷酸尿苷酰转移酶(galactose -l - phosphate uridyltransferase,GALT)和尿苷二磷酸半乳糖一4'-表异构酶(uridinediphosphate galactose - 4'- epimerase,GALE)。GALT缺陷又称为经典型半乳糖血症,是最常见的一种半乳糖血症[1]。
Noun1.galactosemia- a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth inborn error of metabolism- any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme...
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Aldose-1-epimerase (mutarotase) catalyzes the interconversion of 伪 and 尾 hexoses, which is essential for normal carbohydrate metabolism and the production of complex oligosaccharides. Galactose mutarotase (GALM) has been well characterized at the protein level, but information is lacking on the ...
半乳糖代谢途径中有3种主要的酶,包括半乳糖激酶( galactokinase,GALK)、半乳糖一l一磷酸尿苷酰转移酶(galactose -l - phosphate uridyltransferase,GALT)和尿苷二磷酸半乳糖一4'-表异构酶(uridinediphosphate galactose - 4'- epimerase,GALE)。GALT缺陷又称为经典型半乳糖血症,是最常见的一种半乳糖血症[1]。
半乳糖代谢途径中有3种主要的酶,包括半乳糖激酶( galactokinase,GALK)、半乳糖一l一磷酸尿苷酰转移酶(galactose -l - phosphate uridyltransferase,GALT)和尿苷二磷酸半乳糖一4'-表异构酶(uridinediphosphate galactose - 4'- epimerase,GALE)。GALT缺陷又称为经典型半乳糖血症,是最常见的一种半乳糖血症[1]。
目前已知有三种酶缺乏会造成此代谢障碍:分别是半乳糖激酶(Galactokinase, GALK)、半乳糖-1-磷酸尿甘酰转移酶(Galactose-1-phosphate uridylyl transferase, GALT),及尿甘双磷酸半乳糖-4-异构酶(Uridine diphosphate-4-epimerase, GALE)。由于代谢乳糖时的中间产物无法有效移除,持...