GALACTOSE-1-PHOSPHATE IN THE PATHOPHYSIOLOGY OF GALACTOSEMIA
GALACTOSE-1-PHOSPHATE IN THE PATHOPHYSIOLOGY OF GALACTOSEMIA
复制标题
DOI：
10.1007/bf02143803
复制
发表时间：
1995-01-01
影响因子：
3.6
通讯作者：
GITZELMANN, R
中科院分区：
文献类型：
--
作者：
GITZELMANN, R
在半乳糖血症中，当摄入乳糖或半乳糖时，半乳糖-1-磷酸（gal-1-P）不能正常代谢，并在胎儿和出生后的各种组织中积累。治疗良好的半乳糖细胞保持低水平的红细胞gal-1-P，在饮食中断后增加。该酯是葡萄糖生成半乳糖的指示物，通过抑制葡萄糖-6-磷酸酶、葡萄糖-6-磷酸脱氢酶、磷酸葡萄糖糖化酶和糖原磷酸化酶等酶被认为是一种致病因子，但证据仍然是推测性的。半乳糖磷酸化和去磷酸化的无效循环以及gal-1-P中磷的隔离也被怀疑在半乳糖血症的发病机制中发挥作用。
In galactosemia, galactose-1-phosphate (gal-1-P) is not properly metabolized and accumulates in the fetus and after birth in various tissues when lactose or galactose is ingested. Well-treated galactosemics retain a low level of red cell gal-1-P which increases after breaks of diet. The ester is an indicator of the biogenesis of galactose from glucose and has been considered a pathogenic agent by inhibiting enzymes such as glucose-6-phosphatase, glucose-6-phosphate dehydrogenase, phosphoglucomutase, and glycogen phosphorylase, but the evidence remains presumptive. A futile cycle of galactose phosphorylation and dephosphorylation, and the sequestration of phosphorus in gal-1-P are also suspected to play a role in the pathogenesis of galactosemia.