Gitzelmann R
Department of Pediatrics, University of Zürich, Switzerland.
Eur J Pediatr. 1995;154(7 Suppl 2):S45-9. doi: 10.1007/BF02143803.
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.
在半乳糖血症中，当摄入乳糖或半乳糖时，1-磷酸半乳糖（gal-1-P）不能正常代谢，并在胎儿期及出生后在各种组织中蓄积。接受良好治疗的半乳糖血症患者红细胞中的gal-1-P水平较低，在饮食中断后会升高。这种酯是葡萄糖生成半乳糖的生物合成指标，并且通过抑制葡萄糖-6-磷酸酶、葡萄糖-6-磷酸脱氢酶、磷酸葡萄糖变位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起作用。
